ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1531G>T (p.Gly511Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV004587653 SCV005073691 likely pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2024-07-01 criteria provided, single submitter clinical testing A homozygous nonsense variant in exon 15 of the ATP6V0A4 gene (chr7:g.138739581C>A) that results in a stop codon and premature truncation of the protein at codon 511 (p.Gly511Ter; ENST00000310018.7) was detected (Table). The observed variant lies in the "V-type ATPase 116kDa subunit family" domain of the ATP6V0A4 protein (PF01496). The variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2.1), topmed. The in-silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species.

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