ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003080443 SCV003480487 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2023-09-21 criteria provided, single submitter clinical testing 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 histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 348 of the BMP4 protein (p.His348Tyr). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 2167153). 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 not expected to disrupt BMP4 protein function.

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