Submissions for variant NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002668413	SCV003529716	uncertain significance	Inborn genetic diseases	2022-01-31	criteria provided, single submitter	clinical testing	The c.1099A>C (p.S367R) alteration is located in exon 4 (coding exon 2) of the BMP4 gene. This alteration results from a A to C substitution at nucleotide position 1099, causing the serine (S) at amino acid position 367 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV005002980	SCV005629313	likely benign	Microphthalmia with brain and digit anomalies; Orofacial cleft 11	2024-03-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918945	SCV004735290	uncertain significance	BMP4-related disorder	2024-02-14	no assertion criteria provided	clinical testing	The BMP4 c.1099A>C variant is predicted to result in the amino acid substitution p.Ser367Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.