ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)

gnomAD frequency: 0.00004  dbSNP: rs372952394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592364 SCV000707104 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000800886 SCV000940628 uncertain significance Qualitative or quantitative defects of dysferlin 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 285 of the DYSF protein (p.Thr285Met). This variant is present in population databases (rs372952394, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical suspicion of limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 500937). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002476321 SCV002791584 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-05-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000592364 SCV003830886 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273971 SCV001457608 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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