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NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly) AND Neuropathy, hereditary motor and sensory, type 6B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 20, 2019
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:
RCV001067403.7

Allele description [Variation Report for NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)]

NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)

Gene:
SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.1
Genomic location:
Preferred name:
NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)
HGVS:
  • NC_000005.10:g.110739243T>G
  • NG_051334.1:g.6108T>G
  • NM_001303249.3:c.124T>G
  • NM_001303250.3:c.10+996T>G
  • NM_138773.4:c.124T>GMANE SELECT
  • NP_001290178.1:p.Trp42Gly
  • NP_620128.1:p.Trp42Gly
  • LRG_1091t1:c.124T>G
  • LRG_1091:g.6108T>G
  • LRG_1091p1:p.Trp42Gly
  • NC_000005.9:g.110074944T>G
  • NM_138773.2:c.124T>G
  • NR_138151.2:n.237T>G
Protein change:
W42G
Links:
dbSNP: rs1167256450
NCBI 1000 Genomes Browser:
rs1167256450
Molecular consequence:
  • NM_001303250.3:c.10+996T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001303249.3:c.124T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138773.4:c.124T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_138151.2:n.237T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Neuropathy, hereditary motor and sensory, type 6B (HMSN6B)
Synonyms:
HMSN VIB; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014671; MedGen: C4225302; OMIM: 616505

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001232464Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 20, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001232464.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SLC25A46-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with glycine at codon 42 of the SLC25A46 protein (p.Trp42Gly). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and glycine.

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

Last Updated: Nov 3, 2024