ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)

dbSNP: rs2094528176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340929 SCV004047794 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The stop gained c.4550G>A (p.Trp1517Ter) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Trp1517Ter variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathigenic.
Baylor Genetics RCV003466067 SCV004192260 pathogenic Miyoshi muscular dystrophy 1 2023-01-26 criteria provided, single submitter clinical testing

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