NM_001136472.2(LITAF):c.226G>T (p.Val76Leu) AND Charcot-Marie-Tooth disease type 1C

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2022
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:: RCV000639572.7

Allele description [Variation Report for NM_001136472.2(LITAF):c.226G>T (p.Val76Leu)]

NM_001136472.2(LITAF):c.226G>T (p.Val76Leu)

Gene:

LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

Preferred name:

NM_001136472.2(LITAF):c.226G>T (p.Val76Leu)

HGVS:

NC_000016.10:g.11553684C>A
NG_009008.1:g.38267G>T
NM_001136472.2:c.226G>TMANE SELECT
NM_001136473.1:c.226G>T
NM_004862.4:c.226G>T
NP_001129944.1:p.Val76Leu
NP_001129945.1:p.Val76Leu
NP_004853.2:p.Val76Leu
NP_004853.2:p.Val76Leu
LRG_253t1:c.226G>T
LRG_253:g.38267G>T
LRG_253p1:p.Val76Leu
NC_000016.9:g.11647540C>A
NM_004862.3:c.226G>T
NR_024320.2:n.360G>T

Protein change:

V76L

Links:

dbSNP: rs371334679

NCBI 1000 Genomes Browser:

rs371334679

Molecular consequence:

NM_001136472.2:c.226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001136473.1:c.226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004862.4:c.226G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_024320.2:n.360G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 1C
Synonyms:: CMT, SLOW NERVE CONDUCTION TYPE C; HMSN IC; CMT 1C; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010995; MedGen: C0270913; Orphanet: 101083; OMIM: 601098

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000761148	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 10, 2022)	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

SCV000761148

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 10, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000761148.4

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

Description

This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 76 of the LITAF protein (p.Val76Leu). 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 532703). This variant has not been reported in the literature in individuals affected with LITAF-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024

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