ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

gnomAD frequency: 0.00001  dbSNP: rs886044411
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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) RCV000726457 SCV000344805 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726457 SCV001152339 likely pathogenic not provided 2016-05-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463778 SCV004196498 pathogenic Miyoshi muscular dystrophy 1 2023-07-06 criteria provided, single submitter clinical testing
Invitae RCV003736690 SCV004517950 pathogenic Qualitative or quantitative defects of dysferlin 2023-06-28 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: 290284). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 33610434). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln1470*) 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).
Counsyl RCV000306643 SCV000792411 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-06-22 no assertion criteria provided clinical testing

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