ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.152A>G (p.Tyr51Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051697 SCV005679152 uncertain significance Osteopetrosis with renal tubular acidosis 2024-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV005311161 SCV005977715 uncertain significance Inborn genetic diseases 2024-12-31 criteria provided, single submitter clinical testing The c.152A>G (p.Y51C) alteration is located in exon 2 (coding exon 2) of the CA2 gene. This alteration results from a A to G substitution at nucleotide position 152, causing the tyrosine (Y) at amino acid position 51 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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