The c.37T>A (p.S13T) alteration is located in exon 4 (coding exon 1) of the GTDC1 gene. This alteration results from a T to A substitution at nucleotide position 37, causing the serine (S) at amino acid position 13 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001376312.2(GTDC1):c.37T>A (p.Ser13Thr)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001376312.2(GTDC1):c.37T>A (p.Ser13Thr)
Variation ID: 2390926 Accession: VCV002390926.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q22.3 2: 144208745 (GRCh38) [ NCBI UCSC ] 2: 144966312 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 8, 2023 May 1, 2024 Jul 15, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376312.2:c.37T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363241.1:p.Ser13Thr missense NM_001006636.5:c.37T>A NP_001006637.1:p.Ser13Thr missense NM_001164629.5:c.37T>A NP_001158101.1:p.Ser13Thr missense NM_001284233.4:c.37T>A NP_001271162.1:p.Ser13Thr missense NM_001284234.3:c.-209+26931T>A intron variant NM_001284235.2:c.37T>A NP_001271164.1:p.Ser13Thr missense NM_001284238.3:c.-292T>A 5 prime UTR NM_001354350.2:c.-691T>A 5 prime UTR NM_001354351.2:c.-477T>A 5 prime UTR NM_001354352.2:c.37T>A NP_001341281.1:p.Ser13Thr missense NM_001354353.2:c.37T>A NP_001341282.1:p.Ser13Thr missense NM_001354354.2:c.37T>A NP_001341283.1:p.Ser13Thr missense NM_001354355.3:c.-684T>A 5 prime UTR NM_001354356.2:c.37T>A NP_001341285.1:p.Ser13Thr missense NM_001354358.1:c.37T>A NP_001341287.1:p.Ser13Thr missense NM_001354360.2:c.37T>A NP_001341289.1:p.Ser13Thr missense NM_001354361.1:c.37T>A NP_001341290.1:p.Ser13Thr missense NM_001354362.3:c.37T>A NP_001341291.1:p.Ser13Thr missense NM_001376306.2:c.37T>A NP_001363235.1:p.Ser13Thr missense NM_001376307.2:c.37T>A NP_001363236.1:p.Ser13Thr missense NM_001376308.2:c.37T>A NP_001363237.1:p.Ser13Thr missense NM_001376309.2:c.37T>A NP_001363238.1:p.Ser13Thr missense NM_001376310.2:c.37T>A NP_001363239.1:p.Ser13Thr missense NM_001376311.2:c.37T>A NP_001363240.1:p.Ser13Thr missense NM_001376313.2:c.37T>A NP_001363242.1:p.Ser13Thr missense NM_001376314.2:c.37T>A NP_001363243.1:p.Ser13Thr missense NM_001376315.2:c.37T>A NP_001363244.1:p.Ser13Thr missense NM_001376316.2:c.37T>A NP_001363245.1:p.Ser13Thr missense NM_001376317.2:c.37T>A NP_001363246.1:p.Ser13Thr missense NM_001376318.2:c.37T>A NP_001363247.1:p.Ser13Thr missense NM_001376319.2:c.37T>A NP_001363248.1:p.Ser13Thr missense NM_001376320.2:c.37T>A NP_001363249.1:p.Ser13Thr missense NM_001376321.2:c.37T>A NP_001363250.1:p.Ser13Thr missense NM_001376322.2:c.37T>A NP_001363251.1:p.Ser13Thr missense NM_001376323.2:c.37T>A NP_001363252.1:p.Ser13Thr missense NM_001376324.2:c.37T>A NP_001363253.1:p.Ser13Thr missense NM_001376325.2:c.37T>A NP_001363254.1:p.Ser13Thr missense NM_001376326.2:c.37T>A NP_001363255.1:p.Ser13Thr missense NM_001376327.2:c.37T>A NP_001363256.1:p.Ser13Thr missense NM_001376328.1:c.37T>A NP_001363257.1:p.Ser13Thr missense NM_001376329.2:c.-788T>A 5 prime UTR NM_001376330.1:c.37T>A NP_001363259.1:p.Ser13Thr missense NM_001376331.2:c.37T>A NP_001363260.1:p.Ser13Thr missense NM_001376332.2:c.37T>A NP_001363261.1:p.Ser13Thr missense NM_024659.6:c.37T>A NP_078935.2:p.Ser13Thr missense NR_148872.2:n.270T>A non-coding transcript variant NR_164799.2:n.379T>A non-coding transcript variant NR_164800.2:n.317T>A non-coding transcript variant NR_164801.2:n.261T>A non-coding transcript variant NR_164802.2:n.261T>A non-coding transcript variant NR_164803.2:n.261T>A non-coding transcript variant NR_164804.2:n.261T>A non-coding transcript variant NR_164805.2:n.261T>A non-coding transcript variant NR_164806.2:n.342T>A non-coding transcript variant NR_164807.2:n.261T>A non-coding transcript variant NR_164808.2:n.261T>A non-coding transcript variant NR_164809.2:n.863T>A non-coding transcript variant NC_000002.12:g.144208745A>T NC_000002.11:g.144966312A>T - Protein change
- S13T
- Other names
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- Canonical SPDI
- NC_000002.12:144208744:A:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| GTDC1 | - | - |
GRCh38 GRCh37 |
18 | 57 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jul 15, 2021 | RCV004225267.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Jul 15, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003738780.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.37T>A (p.S13T) alteration is located in exon 4 (coding exon 1) of the GTDC1 gene. This alteration results from a T to A substitution … (more)
The c.37T>A (p.S13T) alteration is located in exon 4 (coding exon 1) of the GTDC1 gene. This alteration results from a T to A substitution at nucleotide position 37, causing the serine (S) at amino acid position 13 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.37T>A (p.S13T) alteration is located in exon 4 (coding exon 1) of the GTDC1 gene. This alteration results from a T to A substitution at nucleotide position 37, causing the serine (S) at amino acid position 13 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Nov 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.