ClinVar Miner

Submissions for variant NM_145064.3(STAC3):c.323G>A (p.Arg108Gln)

gnomAD frequency: 0.00013  dbSNP: rs186941885
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234972 SCV001407635 uncertain significance Bailey-Bloch congenital myopathy 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 108 of the STAC3 protein (p.Arg108Gln). This variant is present in population databases (rs186941885, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with STAC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 961299). 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 STAC3 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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