ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1376A>G (p.Asn459Ser) (rs1564725605)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000779841 SCV000916690 uncertain significance not specified 2017-11-02 criteria provided, single submitter clinical testing Variant summary: The c.1376A>G (p.Asn459Ser) in BMPR1A gene is a missense variant involves a highly conserved nucleotide and 2/4 in silico tools predict benign outcome, however no functional studies supporting these predictions were published at the time of evaluation. The variant is located within tyrosine kinase functional domain. The c.1376A>G variant is absent from the control population datasets of ExAC and gnomAD (121406 and 246258 chrs tested, respectively). To our knowledge, the variant has not been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taken together, the variant was classified as VUS, until new information becomes available.

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