ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)

dbSNP: rs766016391
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724391 SCV000230544 pathogenic not provided 2016-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527540 SCV000649694 pathogenic Qualitative or quantitative defects of dysferlin 2024-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1478*) 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). This variant is present in population databases (rs766016391, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with LGMD and/or proximodistal myopathy (PMID: 17698709, 25868377). ClinVar contains an entry for this variant (Variation ID: 197433). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000724391 SCV002021855 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000178461 SCV002318690 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000197433, PMID:25868377). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000040). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Athena Diagnostics RCV000724391 SCV002770745 pathogenic not provided 2022-05-12 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been seen in individuals with limb-girdle muscular dystrophy or myopathy.
Fulgent Genetics, Fulgent Genetics RCV002485170 SCV002782999 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-03-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468866 SCV004194160 pathogenic Miyoshi muscular dystrophy 1 2024-02-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000724391 SCV005413458 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing PP4, PM2_moderate, PM3, PVS1
Counsyl RCV000178461 SCV000795634 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-10 no assertion criteria provided clinical testing
Natera, Inc. RCV000178461 SCV001452776 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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