ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003502171 SCV004369996 likely pathogenic ALG9 congenital disorder of glycosylation 2023-07-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This missense change has been observed in individual(s) with cutis laxa (PMID: 29419872; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 397 of the ATP6V0A2 protein (p.Ala397Pro). This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon.
Fulgent Genetics, Fulgent Genetics RCV005013044 SCV005634179 likely pathogenic Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2024-04-16 criteria provided, single submitter clinical testing

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