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NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) AND Charcot-Marie-Tooth disease

Germline classification:
Pathogenic (1 submission)
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:
RCV001174070.1

Allele description [Variation Report for NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)]

NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)

Gene:
SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
HGVS:
  • NC_000009.12:g.92068095A>T
  • NG_007950.1:g.52314T>A
  • NM_001281303.2:c.431T>A
  • NM_001368272.1:c.65T>A
  • NM_001368273.1:c.-35T>A
  • NM_006415.4:c.431T>AMANE SELECT
  • NP_001268232.1:p.Val144Asp
  • NP_001355201.1:p.Val22Asp
  • NP_006406.1:p.Val144Asp
  • LRG_272t1:c.431T>A
  • LRG_272:g.52314T>A
  • LRG_272p1:p.Val144Asp
  • NC_000009.11:g.94830377A>T
  • NM_006415.2:c.431T>A
  • NM_006415.3:c.431T>A
  • O15269:p.Val144Asp
Protein change:
V144D; VAL144ASP
Links:
UniProtKB: O15269#VAR_011394; OMIM: 605712.0003; dbSNP: rs119482083
NCBI 1000 Genomes Browser:
rs119482083
Molecular consequence:
  • NM_001368273.1:c.-35T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281303.2:c.431T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368272.1:c.65T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006415.4:c.431T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001337190Molecular Genetics Laboratory, London Health Sciences Centre
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory, London Health Sciences Centre, SCV001337190.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024