ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) (rs121908956)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790785 SCV000228140 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000807968 SCV000948050 pathogenic Qualitative or quantitative defects of dysferlin 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 791 of the DYSF protein (p.Pro791Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in several families affected with limb-girdle muscular dystrophy (PMID: 10196377) and in an unrelated individual with this condition (PMID: 16996541). ClinVar contains an entry for this variant (Variation ID: 6671). 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"). 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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