ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)

dbSNP: rs398123781
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382340 SCV000331273 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing
Invitae RCV000535509 SCV000649663 pathogenic Qualitative or quantitative defects of dysferlin 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1148*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individuals with Miyoshi myopathy, distal myopathy, limb-girdle muscular dystrophy, and dysferlinopathy (PMID: 15469449, 19528035, 25493284, 27066573, 27602406). This variant is also known as 3817–8TG>AA. ClinVar contains an entry for this variant (Variation ID: 94305). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000763089 SCV000893616 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000382340 SCV002021887 pathogenic not provided 2021-11-25 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000984168 SCV004012115 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2022-12-22 criteria provided, single submitter research
Baylor Genetics RCV003460750 SCV004194206 pathogenic Miyoshi muscular dystrophy 1 2023-09-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000382340 SCV004225935 pathogenic not provided 2023-05-10 criteria provided, single submitter clinical testing PM2, PM3, PS4_moderate, PVS1
Counsyl RCV000984168 SCV001132181 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-02-01 no assertion criteria provided clinical testing

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