ClinVar Miner

Submissions for variant NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)

dbSNP: rs28933089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056523 SCV000321828 pathogenic not provided 2015-06-09 criteria provided, single submitter clinical testing The L99P variant has been reported previously in association with pachyonychia congenita (Terrinoni et al. 2001). The L99P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.
OMIM RCV000015702 SCV000035967 pathogenic Pachyonychia congenita 2 2001-12-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056523 SCV000087634 not provided not provided no assertion provided not provided

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