ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.668G>A (p.Arg223His)

gnomAD frequency: 0.00012  dbSNP: rs766285160
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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 RCV001878816 SCV002130733 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-05-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1371084). This missense change has been observed in individual(s) with penoscrotal hypospadias, or cleft lip and/or cleft palate (PMID: 17003840, 31063268). This variant is present in population databases (rs766285160, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 223 of the BMP4 protein (p.Arg223His).
Fulgent Genetics, Fulgent Genetics RCV001878816 SCV002779585 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2024-05-29 criteria provided, single submitter clinical testing

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