ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.22G>A (p.Glu8Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004687765 SCV005174570 uncertain significance Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing The c.22G>A (p.E8K) alteration is located in exon 3 (coding exon 1) of the ATP6V0A4 gene. This alteration results from a G to A substitution at nucleotide position 22, causing the glutamic acid (E) at amino acid position 8 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040746 SCV005666096 uncertain significance Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2024-05-25 criteria provided, single submitter clinical testing

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