ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1237_1239dup (p.Leu413dup) (rs1064795499)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481230 SCV000571364 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing This in-frame duplication of 3 nucleotides in BMPR1A is denoted c.1237_1239dupCTG at the cDNA level and p.Leu413dup (L413dup) at the protein level. The normal sequence, with the bases that are duplicated in braces, is AGTG[CTG]GACG. This duplication of a single Leucine residue occurs at a position that is conserved across species and is located in the protein kinase domain (UniProt). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BMPR1A Leu413dup to be a variant of uncertain significance.
Invitae RCV000543996 SCV000632690 uncertain significance Juvenile polyposis syndrome 2018-12-28 criteria provided, single submitter clinical testing This variant, c.1237_1239dupCTG, results in the insertion of 1 amino acid(s) to the BMPR1A protein (p.Leu413dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 422008). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
Color RCV000579901 SCV000682849 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing

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