ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) (rs755945768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717370 SCV000848220 uncertain significance History of neurodevelopmental disorder 2016-11-11 criteria provided, single submitter clinical testing The p.M324I variant (also known as c.972G>A), located in coding exon 10 of the PDHA1 gene, results from a G to A substitution at nucleotide position 972. The methionine at codon 324 is replaced by isoleucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Baylor Genetics RCV001329774 SCV001521303 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2019-10-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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