ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)

dbSNP: rs778362577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368789 SCV001565200 uncertain significance Polyglucosan body myopathy type 1 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 69 of the RBCK1 protein (p.Val69Ile). This variant is present in population databases (rs778362577, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1059496). 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 RBCK1 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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