ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1825G>A (p.Glu609Lys)

gnomAD frequency: 0.00001  dbSNP: rs142762485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270760 SCV001451510 uncertain significance Split hand-foot malformation 4 2019-01-09 criteria provided, single submitter clinical testing The TP63 c.1825G>A (p.Glu609Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database and is in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Glu609Lys variant is classified as a variant of uncertain significance for split-hand/foot malformation 4.
Fulgent Genetics, Fulgent Genetics RCV002504980 SCV002816964 uncertain significance ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8 2021-07-15 criteria provided, single submitter clinical testing

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