ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)

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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 RCV002810656 SCV003209476 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2022-11-28 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 PDHA1 protein function. This missense change has been observed in individual(s) with clinical features consistent with pyruvate dehydrogenase deficiency (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 cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 218 of the PDHA1 protein (p.Cys218Tyr).

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