ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)

gnomAD frequency: 0.00001  dbSNP: rs398123794
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790680 SCV000230815 pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing
Counsyl RCV000178688 SCV000799725 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-05-03 criteria provided, single submitter clinical testing
Invitae RCV001384247 SCV001583670 pathogenic Qualitative or quantitative defects of dysferlin 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1837 of the DYSF protein (p.Asp1837Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 11257469, 22194990). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 94340). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYSF protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814049 SCV001755172 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466987 SCV004194199 pathogenic Miyoshi muscular dystrophy 1 2023-09-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000790680 SCV004234859 pathogenic not provided 2023-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000178688 SCV002080330 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-02-03 no assertion criteria provided clinical testing

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