ClinVar Miner

Submissions for variant NM_019016.3(KRT24):c.180T>G (p.Phe60Leu)

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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 RCV004935998 SCV005611241 uncertain significance not specified 2024-09-26 criteria provided, single submitter clinical testing The c.180T>G (p.F60L) alteration is located in exon 1 (coding exon 1) of the KRT24 gene. This alteration results from a T to G substitution at nucleotide position 180, causing the phenylalanine (F) at amino acid position 60 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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