ClinVar Miner

Submissions for variant NM_006129.5(BMP1):c.2809C>T (p.Arg937Cys)

gnomAD frequency: 0.00001  dbSNP: rs754153921
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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 RCV001967793 SCV002225723 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 937 of the BMP1 protein (p.Arg937Cys). This variant is present in population databases (rs754153921, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BMP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1440920). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002563393 SCV003694847 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.2809C>T (p.R937C) alteration is located in exon 19 (coding exon 19) of the BMP1 gene. This alteration results from a C to T substitution at nucleotide position 2809, causing the arginine (R) at amino acid position 937 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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