ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)

dbSNP: rs886042878
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725459 SCV000700979 likely pathogenic not provided 2015-10-28 criteria provided, single submitter clinical testing
Counsyl RCV000596973 SCV000792189 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-06-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725459 SCV003830931 uncertain significance not provided 2019-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003736685 SCV004551507 likely pathogenic Qualitative or quantitative defects of dysferlin 2022-12-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYSF protein function. ClinVar contains an entry for this variant (Variation ID: 284469). This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 33250842). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 69 of the DYSF protein (p.Val69Gly).

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