ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1384A>C (p.Thr462Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences RCV004799819 SCV005407770 likely pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2024-05-12 no assertion criteria provided clinical testing A homozygous missense variant c.1384A>C in ATP6V0A4 gene (chr7:138429962; Depth:102x) was detected. The variant replaces threonine with proline at the 462nd amino acid position. This variant is not observed in 1000 genomes, topmed and gnomAD database. In silico predictions suggests the variant to be deleterious effect on the gene by MutationTaster, SIFT, CADD and REVEL. Based on the aforementioned evidence, the variant is classified as a variant of likely pathogenic based on the ACMG-AMP classification system.

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