ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.512G>A (p.Trp171Ter)

dbSNP: rs1064796998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485349 SCV000574308 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing The W171X variant in the BMP4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The W171X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W171X as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005004188 SCV005629340 likely pathogenic Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2024-06-14 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000485349 SCV000920714 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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