ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)

gnomAD frequency: 0.00005  dbSNP: rs539727858
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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) RCV000296726 SCV000340099 uncertain significance not provided 2016-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480029 SCV002793005 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-08-02 criteria provided, single submitter clinical testing
Invitae RCV002519242 SCV002979723 uncertain significance Qualitative or quantitative defects of dysferlin 2021-12-23 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 1044 of the DYSF protein (p.Arg1044Cys). This variant is present in population databases (rs539727858, gnomAD 0.02%). 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: 286603). 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. 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 RCV000296726 SCV003830939 uncertain significance not provided 2020-08-27 criteria provided, single submitter clinical testing

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