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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001908725 SCV002176149 uncertain significance TP63-Related Spectrum Disorders 2023-08-04 criteria provided, single submitter clinical testing 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 of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TP63 protein function. 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. 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%).
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

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