ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.488G>A (p.Arg163His)

gnomAD frequency: 0.00001  dbSNP: rs142617068
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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 RCV001950315 SCV002219419 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 163 of the PDSS2 protein (p.Arg163His). This variant is present in population databases (rs142617068, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PDSS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1440087). 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 PDSS2 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.
Fulgent Genetics, Fulgent Genetics RCV002484706 SCV002787905 uncertain significance Coenzyme Q10 deficiency, primary, 3 2021-08-30 criteria provided, single submitter clinical testing

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