ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)

gnomAD frequency: 0.00011  dbSNP: rs764996618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824394 SCV000965290 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 107 of the PDHA1 protein (p.Gly107Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PDHA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 665997). 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 PDHA1 protein function with a negative predictive value of 80%. 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.
Natera, Inc. RCV001271287 SCV001452365 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-09-16 no assertion criteria provided clinical testing

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