ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)

dbSNP: rs1385670493
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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 RCV000820141 SCV000960838 uncertain significance Qualitative or quantitative defects of dysferlin 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1222 of the DYSF protein (p.Pro1222Leu). This variant is not present in population databases (gnomAD no frequency). 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: 662487). 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. 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. RCV001830800 SCV002082288 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-02-16 no assertion criteria provided clinical testing

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