ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.935C>T (p.Ser312Leu)

gnomAD frequency: 0.00002  dbSNP: rs778093557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302973 SCV001492203 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2024-09-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 312 of the BMP4 protein (p.Ser312Leu). This variant is present in population databases (rs778093557, gnomAD 0.003%). 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: 1006001). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BMP4 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV001302973 SCV002793358 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2024-04-12 criteria provided, single submitter clinical testing

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