ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)

dbSNP: rs786205081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700124 SCV000828866 pathogenic Qualitative or quantitative defects of dysferlin 2023-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6666). This premature translational stop signal has been observed in individuals with myopathy (PMID: 9731526, 11198284, 17698709, 18853459, 22194990). This variant is present in population databases (rs766993624, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly1865Alafs*101) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).
Revvity Omics, Revvity RCV001781197 SCV002021857 pathogenic not provided 2019-05-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466822 SCV004194185 pathogenic Miyoshi muscular dystrophy 1 2023-12-16 criteria provided, single submitter clinical testing
OMIM RCV000007048 SCV000027244 pathogenic Distal myopathy with anterior tibial onset 2001-01-01 no assertion criteria provided literature only

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