ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.328G>C (p.Val110Leu)

gnomAD frequency: 0.00017  dbSNP: rs150788587
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186084 SCV000239108 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina RCV000380145 SCV000382008 uncertain significance Propionic acidemia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000380145 SCV001696437 likely benign Propionic acidemia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002513960 SCV003569967 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing The c.328G>C (p.V110L) alteration is located in exon 5 (coding exon 5) of the PCCA gene. This alteration results from a G to C substitution at nucleotide position 328, causing the valine (V) at amino acid position 110 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000380145 SCV001455842 uncertain significance Propionic acidemia 2020-09-16 no assertion criteria provided clinical testing

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