ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.342del (p.Ala116fs)

dbSNP: rs886042379
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377821 SCV000333723 pathogenic not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV000532444 SCV000649660 pathogenic Qualitative or quantitative defects of dysferlin 2023-03-17 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: 282316). This premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 27647186). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala115Profs*36) 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).
CeGaT Center for Human Genetics Tuebingen RCV000377821 SCV001246778 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502101 SCV002807596 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469224 SCV004192280 pathogenic Miyoshi muscular dystrophy 1 2024-03-02 criteria provided, single submitter clinical testing
Counsyl RCV000593550 SCV000790869 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-04-12 no assertion criteria provided clinical testing

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