NM_001927.4(DES):c.386T>G (p.Leu129Arg) AND Desmin-related myofibrillar myopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 5, 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:: RCV001888348.6

Allele description [Variation Report for NM_001927.4(DES):c.386T>G (p.Leu129Arg)]

NM_001927.4(DES):c.386T>G (p.Leu129Arg)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.386T>G (p.Leu129Arg)

HGVS:

NC_000002.12:g.219418848T>G
NG_008043.1:g.5472T>G
NM_001382708.1:c.386T>G
NM_001382709.1:c.386T>G
NM_001382710.1:c.386T>G
NM_001382711.1:c.386T>G
NM_001382712.1:c.386T>G
NM_001382713.1:c.386T>G
NM_001927.4:c.386T>GMANE SELECT
NP_001369637.1:p.Leu129Arg
NP_001369638.1:p.Leu129Arg
NP_001369639.1:p.Leu129Arg
NP_001369640.1:p.Leu129Arg
NP_001369641.1:p.Leu129Arg
NP_001369642.1:p.Leu129Arg
NP_001918.3:p.Leu129Arg
LRG_380:g.5472T>G
NC_000002.11:g.220283570T>G

Protein change:

L129R

Links:

dbSNP: rs1954374163

NCBI 1000 Genomes Browser:

rs1954374163

Molecular consequence:

NM_001382708.1:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382709.1:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382710.1:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382711.1:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382712.1:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382713.1:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001927.4:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Desmin-related myofibrillar myopathy (MFM1)
Synonyms:: Desminopathy; Desmin related myopathy (former name); Desmin storage myopathy (former name); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 363543; Orphanet: 98909; OMIM: 601419

Recent activity

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Homo sapiens decorin D mRNA, complete cds, alternatively spliced
Homo sapiens decorin D mRNA, complete cds, alternatively spliced
gi|7381210|gb|AF138303.1|

Nucleotide
lipoprotein adhesin JlpA [Campylobacter jejuni]
lipoprotein adhesin JlpA [Campylobacter jejuni]
gi|2518337832|gb|KAJ9877362.1||gnl| DJB|QR426_03325

Protein
Squalius carolitertii isolate SQCA5 rhodopsin (RHO) gene, partial cds
Squalius carolitertii isolate SQCA5 rhodopsin (RHO) gene, partial cds
gi|2427552648|gb|OP762399.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002142498	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 5, 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

SCV002142498

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 5, 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, SCV002142498.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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"). ClinVar contains an entry for this variant (Variation ID: 1377133). This variant has not been reported in the literature in individuals affected with DES-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 129 of the DES protein (p.Leu129Arg).

#	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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