ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)

gnomAD frequency: 0.00001  dbSNP: rs80356750
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790836 SCV000227419 pathogenic not provided 2013-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003502506 SCV004295441 pathogenic ALG9 congenital disorder of glycosylation 2023-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 845). This premature translational stop signal has been observed in individual(s) with cutis laxa (PMID: 18157129, 27896089, 31980526). This variant is present in population databases (rs80356750, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg63*) in the ATP6V0A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V0A2 are known to be pathogenic (PMID: 18157129, 19321599).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004579513 SCV005062064 pathogenic Cutis laxa 2024-03-18 criteria provided, single submitter clinical testing Variant summary: ATP6V0A2 c.187C>T (p.Arg63X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 250700 control chromosomes (gnomAD). c.187C>T has been reported in the literature in individuals affected with Cutis Laxa - ATP6V0A2 Related (example: Fischer_2012). These data indicate that the variant is likely to be associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 22773132). ClinVar contains an entry for this variant (Variation ID: 845). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005007801 SCV005634175 pathogenic Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2024-03-19 criteria provided, single submitter clinical testing
OMIM RCV000000888 SCV000021038 pathogenic Cutis laxa with osteodystrophy 2008-01-01 no assertion criteria provided literature only
GeneReviews RCV000000888 SCV000041230 not provided Cutis laxa with osteodystrophy no assertion provided literature only

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