ClinVar Miner

Submissions for variant NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala)

gnomAD frequency: 0.00001  dbSNP: rs368577086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810738 SCV000950971 uncertain significance Qualitative or quantitative defects of dysferlin 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 496 of the DYSF protein (p.Pro496Ala). This variant is present in population databases (rs368577086, 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: 654728). 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.
Natera, Inc. RCV001830768 SCV002079808 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-03-16 no assertion criteria provided clinical testing

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