ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)

gnomAD frequency: 0.00001  dbSNP: rs121908956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685812 SCV000813310 likely pathogenic Qualitative or quantitative defects of dysferlin 2022-10-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Pro791 amino acid residue in DYSF. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10196377, 16996541, 29382405). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 566085). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 791 of the DYSF protein (p.Pro791Leu).
Revvity Omics, Revvity RCV003144484 SCV003831348 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing

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