ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2723C>T (p.Thr908Met)

dbSNP: rs796052032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186130 SCV000239155 likely pathogenic not provided 2014-09-29 criteria provided, single submitter clinical testing p.Thr908Met (ACG>ATG): c.2723 C>T in exon 19 of the PC gene (NM_000920.3) A T908M variant that is likely pathogenic was identified in the PC gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The T908M 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. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
Counsyl RCV000675135 SCV000800719 uncertain significance Pyruvate carboxylase deficiency 2018-06-06 criteria provided, single submitter clinical testing

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