ClinVar Miner

Submissions for variant NM_024928.5(STN1):c.398G>A (p.Arg133Gln)

gnomAD frequency: 0.00001  dbSNP: rs373606965
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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 RCV001893339 SCV002166523 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs373606965, gnomAD 0.006%). 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. 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 STN1 protein function. ClinVar contains an entry for this variant (Variation ID: 1391941). This variant has not been reported in the literature in individuals affected with STN1-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 133 of the STN1 protein (p.Arg133Gln).
Fulgent Genetics, Fulgent Genetics RCV002506973 SCV002814136 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 2 2022-01-05 criteria provided, single submitter clinical testing

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