ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys)

gnomAD frequency: 0.00001  dbSNP: rs377079619
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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) RCV000296321 SCV000338656 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Invitae RCV000689297 SCV000816940 uncertain significance Qualitative or quantitative defects of dysferlin 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1090 of the DYSF protein (p.Arg1090Cys). This variant is present in population databases (rs377079619, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 285577). 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"). 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.
Revvity Omics, Revvity RCV000296321 SCV003829576 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276441 SCV001462787 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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