ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn)

gnomAD frequency: 0.00013  dbSNP: rs886062623
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003789257 SCV004574824 uncertain significance Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 563 of the TRPS1 protein (p.Tyr563Asn). This variant is present in population databases (no rsID available, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TRPS1-related conditions. 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) performed at Invitae indicates that this missense variant is expected to disrupt TRPS1 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.

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