ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) (rs143802431)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000310903 SCV000376920 uncertain significance Cutis laxa with osteodystrophy 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.
GeneDx RCV000493630 SCV000582748 uncertain significance not specified 2017-05-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATP6V0A2 gene. The A205V variant was previously identified in a cohort of 100 unrelated Qatari individuals who underwent exome sequencing (Rodriguez-Flores et al., 2014), although no allele frequency or clinical information associated with this variant was reported. The A205V variant is observed in 16/11570 (0.14%) alleles from individuals of Latino ancestry, and in 39/66728 (0.06%) alleles from individuals of Non-Finnish European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). While this substitution occurs at a position that is conserved in mammals, A205V is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Genetic Services Laboratory, University of Chicago RCV000493630 SCV000593524 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763803 SCV000894717 uncertain significance Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000872211 SCV001013995 likely benign ALG9 congenital disorder of glycosylation 2020-11-17 criteria provided, single submitter clinical testing

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