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NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 1, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000726730.10

Allele description [Variation Report for NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)]

NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)

Gene:
SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
Other names:
p.V637A:GTT>GCT
HGVS:
  • NC_000007.14:g.96121309A>G
  • NG_012247.2:g.205839T>C
  • NM_001160210.2:c.1913T>C
  • NM_014251.3:c.1910T>CMANE SELECT
  • NP_001153682.1:p.Val638Ala
  • NP_055066.1:p.Val637Ala
  • NC_000007.13:g.95750621A>G
  • NM_014251.2:c.1910T>C
  • NR_027662.2:n.1936T>C
Protein change:
V637A
Links:
dbSNP: rs148962110
NCBI 1000 Genomes Browser:
rs148962110
Molecular consequence:
  • NM_001160210.2:c.1913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014251.3:c.1910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027662.2:n.1936T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239187GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 1, 2021) 		germlineclinical testing

Citation Link,

SCV000702530Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Uncertain significance
(Jul 27, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000239187.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000702530.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 13, 2024