ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1530G>T (p.Met510Ile)

gnomAD frequency: 0.00005  dbSNP: rs200578530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908725 SCV002176149 uncertain significance TP63-Related Spectrum Disorders 2024-07-19 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 510 of the TP63 protein (p.Met510Ile). This variant is present in population databases (rs200578530, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TP63-related conditions. ClinVar contains an entry for this variant (Variation ID: 1402802). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt TP63 function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003303347 SCV004005766 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.1530G>T (p.M510I) alteration is located in exon 12 (coding exon 12) of the TP63 gene. This alteration results from a G to T substitution at nucleotide position 1530, causing the methionine (M) at amino acid position 510 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine RCV004556090 SCV005045338 uncertain significance Bladder exstrophy-epispadias-cloacal extrophy complex criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004693915 SCV005189928 uncertain significance not provided criteria provided, single submitter not provided

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