ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)

dbSNP: rs762258343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317613 SCV000333868 uncertain significance not provided 2015-08-11 criteria provided, single submitter clinical testing
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000754725 SCV000882612 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV002521880 SCV002975439 uncertain significance Qualitative or quantitative defects of dysferlin 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 1877 of the DYSF protein (p.Tyr1877His). This variant is present in population databases (rs762258343, gnomAD 0.0009%). 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: 282408). 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.

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