ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)

dbSNP: rs121908956
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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) RCV000790785 SCV000228140 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000807968 SCV000948050 pathogenic Qualitative or quantitative defects of dysferlin 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 791 of the DYSF protein (p.Pro791Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with limb-girdle muscular dystrophy (PMID: 10196377, 16996541). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6671). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007055 SCV000027251 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 1999-05-01 no assertion criteria provided literature only
OMIM RCV000007056 SCV000809053 pathogenic Miyoshi muscular dystrophy 1 1999-05-01 no assertion criteria provided literature only

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