ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1373A>G (p.Tyr458Cys)

dbSNP: rs1843694986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214795 SCV001386499 uncertain significance Juvenile polyposis syndrome 2019-05-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BMPR1A-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 458 of the BMPR1A protein (p.Tyr458Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine.

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