ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)

dbSNP: rs113993967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794231 SCV000933625 pathogenic TP63-Related Spectrum Disorders 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 337 of the TP63 protein (p.Arg337Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with TP63-related disorders and ectodermal dysplasia and ARVC (PMID: 8456838, 11929852, 16724007, 18603493, 19781362, 27469932). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Arg298Gln. ClinVar contains an entry for this variant (Variation ID: 6540). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is expected to disrupt TP63 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects TP63 function (PMID: 11929852, 16724007, 18626511, 20543567). This variant disrupts the p.Arg337 amino acid residue in TP63. Other variant(s) that disrupt this residue have been observed in individuals with TP63-related conditions (PMID: 16724007), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001781195 SCV002020267 likely pathogenic not provided 2021-04-23 criteria provided, single submitter clinical testing
OMIM RCV000006914 SCV000027110 pathogenic ADULT syndrome 2008-09-01 no assertion criteria provided literature only

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