ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2T>C (p.Met1Thr) (rs372093520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673344 SCV000798533 uncertain significance Propionyl-CoA carboxylase deficiency 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV000673344 SCV000828779 uncertain significance Propionyl-CoA carboxylase deficiency 2018-05-10 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PCCA mRNA. The next in-frame methionine is located at codon 26. While this variant is present in population databases (rs372093520), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PCCA-related disease. 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.

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