ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)

gnomAD frequency: 0.00009  dbSNP: rs202061751
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726938 SCV000536484 uncertain significance not provided 2023-08-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000726938 SCV000704314 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV001242148 SCV001415216 uncertain significance Qualitative or quantitative defects of dysferlin 2022-10-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1285 of the DYSF protein (p.His1285Tyr). This variant is present in population databases (rs202061751, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 393119). 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 not expected to disrupt DYSF protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000726938 SCV003831329 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276451 SCV001462799 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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