NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val) AND Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (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:: RCV001174079.1

Allele description [Variation Report for NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)]

NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)

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.442T>G (p.Leu148Val)

HGVS:

NC_000009.12:g.92068084A>C
NG_007950.1:g.52325T>G
NM_001281303.2:c.442T>G
NM_001368272.1:c.76T>G
NM_001368273.1:c.-24T>G
NM_006415.4:c.442T>GMANE SELECT
NP_001268232.1:p.Leu148Val
NP_001355201.1:p.Leu26Val
NP_006406.1:p.Leu148Val
LRG_272:g.52325T>G
NC_000009.11:g.94830366A>C
NM_006415.3:c.442T>G

Protein change:

L148V

Links:

dbSNP: rs376342795

NCBI 1000 Genomes Browser:

rs376342795

Molecular consequence:

NM_001368273.1:c.-24T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001281303.2:c.442T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368272.1:c.76T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006415.4:c.442T>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001337199	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001337199

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV001337199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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