ClinVar Miner

Submissions for variant NM_019016.3(KRT24):c.730G>A (p.Val244Met)

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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 RCV005368724 SCV006022212 uncertain significance not specified 2025-02-08 criteria provided, single submitter clinical testing The c.730G>A (p.V244M) alteration is located in exon 3 (coding exon 3) of the KRT24 gene. This alteration results from a G to A substitution at nucleotide position 730, causing the valine (V) at amino acid position 244 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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