ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.605C>T (p.Thr202Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002606242 SCV003498318 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BMP4-related conditions. This variant is present in population databases (rs770008356, gnomAD 0.009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 202 of the BMP4 protein (p.Thr202Met). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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