ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)

gnomAD frequency: 0.00001  dbSNP: rs121908367
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000005457 SCV001424367 pathogenic Autosomal recessive distal renal tubular acidosis criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001807624 SCV002796233 pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2022-01-27 criteria provided, single submitter clinical testing
GeneDx RCV003223607 SCV003919635 pathogenic not provided 2022-10-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34426522, 31589614, 34157794, 28233610, 33083013, 29627839, 10973252)
OMIM RCV001807624 SCV000025639 pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2000-09-01 no assertion criteria provided literature only

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