ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val)

dbSNP: rs886043805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282124 SCV000342094 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing
Invitae RCV001039650 SCV001203189 uncertain significance Qualitative or quantitative defects of dysferlin 2022-04-21 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2066 of the DYSF protein (p.Ala2066Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 288090). 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. This variant disrupts the p.Ala2066 amino acid residue in DYSF. Other variant(s) that disrupt this residue have been observed in individuals with DYSF-related conditions (PMID: 21522182), which suggests that this may be a clinically significant amino acid residue.

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