ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.385C>T (p.Arg129Cys)

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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 RCV003714492 SCV004476882 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 PDGFB protein function. This missense change has been observed in individual(s) with bilateral basal ganglia calcifications (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 129 of the PDGFB protein (p.Arg129Cys).

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