ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) (rs59328451)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057025 SCV000490988 likely pathogenic not provided 2016-06-08 criteria provided, single submitter clinical testing The K354N variant in the KRT16 gene has been reported previously as a de novo variant in the heterozygous state in an individual with delayed-onset pachyonychia congenita. The affected individual presented with hyperkeratosis of the proximal nail folds, lichenified and keratoric papules on fingers, toes, knees, Achilles tendon and malleoli, and patches of perioral scaling at age 6 (Conners et al., 2001). The NHLBI ESP Exome Sequencing Project reports K354N was observed in 12/4404 alleles (0.27%) from individuals of African American background, indicating it may be a rare variant in this population. The K354N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved and is located in the middle of the 2B domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K354N as a likely pathogenic variant. However, the possibility that it may be a rare benign variant cannot be excluded.
OMIM RCV000015711 SCV000035976 pathogenic Pachyonychia congenita 1 2001-05-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057025 SCV000088138 not provided not provided no assertion provided not provided

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