ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.481T>C (p.Phe161Leu)

gnomAD frequency: 0.00001  dbSNP: rs749431429
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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 RCV002048071 SCV002289173 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-10-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BMP4-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1507407). This variant is present in population databases (rs749431429, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 161 of the BMP4 protein (p.Phe161Leu).
Ambry Genetics RCV004046212 SCV004916702 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.481T>C (p.F161L) alteration is located in exon 4 (coding exon 2) of the BMP4 gene. This alteration results from a T to C substitution at nucleotide position 481, causing the phenylalanine (F) at amino acid position 161 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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