ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1219T>G (p.Tyr407Asp)

dbSNP: rs1589292594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010399 SCV001170595 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing The p.Y407D variant (also known as c.1219T>G), located in coding exon 9 of the BMPR1A gene, results from a T to G substitution at nucleotide position 1219. The tyrosine at codon 407 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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