ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1650G>T (p.Lys550Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003448587 SCV004176100 uncertain significance Pachyonychia congenita 3 2023-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778496 SCV004662268 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 550 of the KRT6A protein (p.Lys550Asn). This variant is present in population databases (rs577005792, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with KRT6A-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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