ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1529G>T (p.Gly510Val)

dbSNP: rs1195451609
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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 RCV001823534 SCV002073041 uncertain significance Pachyonychia congenita 3 criteria provided, single submitter clinical testing The missense variant p.G510V in KRT6A (NM_005554.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G510V variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. For these reasons, this variant has been classified as Uncertain Significance.

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