ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)

dbSNP: rs121908963
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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) RCV000594920 SCV000701113 pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000594920 SCV003831935 likely pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003159090 SCV003852655 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2023-03-31 criteria provided, single submitter clinical testing A homozygous missense variant in exon 10 of the DYSF gene that results in the amino acid substitution of Tryptophan for Glycine at codon 331 (p.Gly331Trp) was detected. The p.Gly331Trp variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2) databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.
OMIM RCV000007069 SCV000027265 pathogenic Miyoshi muscular dystrophy 1 2008-03-01 no assertion criteria provided literature only

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