ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.49A>C (p.Ile17Leu) (rs778886055)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216319 SCV000274861 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000701225 SCV000830016 uncertain significance Juvenile polyposis syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 17 of the BMPR1A protein (p.Ile17Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 231113). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758774 SCV000887604 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing
Color RCV000216319 SCV000912932 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing

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