ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1460-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818924 SCV005438898 likely pathogenic Pachyonychia congenita 3 2023-07-22 criteria provided, single submitter clinical testing The observed invariant splice acceptor c.1460-1G>C in KRT6A gene has been previously reported in heterozygote state in a family affected with Palmoplantar Keratoderma N.J. Wilson, et al., 2014. The c.1460-1G>C variant is absent in gnomAD exomes. This variant has not been submitted to ClinVar database. The SpliceAI predicts a score 0.92 for this variant. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as likely pathogenic.

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