ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002918289 SCV003256907 pathogenic Camptomelic dysplasia 2022-01-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 SOX9 protein function. This missense change has been observed in individual(s) with clinical features of campomelic dysplasia (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 172 of the SOX9 protein (p.Tyr172Phe).

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