ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)

gnomAD frequency: 0.00001  dbSNP: rs759062849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198050 SCV000252048 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing p.Arg28Cys (CGT>TGT): c.82 C>T in exon 2 of the PDHA1 gene (NM_000284.3). The R28C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R28C variant is observed in 1/18185 (0.005%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R28C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Ambry Genetics RCV002515421 SCV003607295 uncertain significance Inborn genetic diseases 2022-03-31 criteria provided, single submitter clinical testing The c.82C>T (p.R28C) alteration is located in exon 2 (coding exon 2) of the PDHA1 gene. This alteration results from a C to T substitution at nucleotide position 82, causing the arginine (R) at amino acid position 28 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276605 SCV001463034 uncertain significance Pyruvate dehydrogenase complex deficiency 2019-11-11 no assertion criteria provided clinical testing

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