ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr)

gnomAD frequency: 0.03401  dbSNP: rs73730479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366476 SCV000466903 benign Autosomal recessive distal renal tubular acidosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001511900 SCV001719220 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001511900 SCV001845072 benign not provided 2020-02-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29627839, 28233610)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805028 SCV002051001 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing

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