ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958790 SCV003279704 uncertain significance ALG9 congenital disorder of glycosylation 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 326 of the ATP6V0A2 protein (p.Ala326Ser). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATP6V0A2 protein function. This variant has not been reported in the literature in individuals affected with ATP6V0A2-related conditions. This variant is present in population databases (rs769120800, gnomAD no frequency).
Ambry Genetics RCV002962036 SCV003733460 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.976G>T (p.A326S) alteration is located in exon 9 (coding exon 9) of the ATP6V0A2 gene. This alteration results from a G to T substitution at nucleotide position 976, causing the alanine (A) at amino acid position 326 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV004725432 SCV005328704 likely benign Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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