ClinVar Miner

Submissions for variant NM_001085455.3(KRTAP24-1):c.629A>G (p.Tyr210Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005370880 SCV006023144 uncertain significance not specified 2025-02-03 criteria provided, single submitter clinical testing The c.629A>G (p.Y210C) alteration is located in exon 1 (coding exon 1) of the KRTAP24-1 gene. This alteration results from a A to G substitution at nucleotide position 629, causing the tyrosine (Y) at amino acid position 210 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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