ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.3G>A (p.Met1Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721933 SCV005327631 uncertain significance not provided 2024-02-02 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss of function is a known mechanism of disease, however, in the absence of functional studies, the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005023656 SCV005657222 uncertain significance Renal tubular acidosis with progressive nerve deafness 2023-12-20 criteria provided, single submitter clinical testing

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