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NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002554576.2

Allele description [Variation Report for NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe)]

NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe)

Gene:
SLC35C1:solute carrier family 35 member C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe)
HGVS:
  • NC_000011.10:g.45806001C>T
  • NG_009875.1:g.6930C>T
  • NM_001145265.2:c.161C>T
  • NM_001145266.2:c.161C>T
  • NM_018389.5:c.200C>TMANE SELECT
  • NP_001138737.1:p.Ser54Phe
  • NP_001138738.1:p.Ser54Phe
  • NP_001138738.1:p.Ser54Phe
  • NP_060859.4:p.Ser67Phe
  • NP_060859.4:p.Ser67Phe
  • LRG_107t1:c.200C>T
  • LRG_107:g.6930C>T
  • LRG_107p1:p.Ser67Phe
  • NC_000011.9:g.45827552C>T
  • NM_001145266.1:c.161C>T
  • NM_018389.4:c.200C>T
Protein change:
S54F
Links:
dbSNP: rs554958653
NCBI 1000 Genomes Browser:
rs554958653
Molecular consequence:
  • NM_001145265.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145266.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018389.5:c.200C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003751790Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003751790.2

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

Description

The c.200C>T (p.S67F) alteration is located in exon 1 (coding exon 1) of the SLC35C1 gene. This alteration results from a C to T substitution at nucleotide position 200, causing the serine (S) at amino acid position 67 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024