ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.676delG (rs1064796072)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481559 SCV000572478 likely pathogenic not provided 2016-12-15 criteria provided, single submitter clinical testing The c.676delG variant in the BMPR1A gene is predicted to cause a frameshift starting with codon Valine 226, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Val226PhefsX35. Alternatively, as the deleted nucleotide is the first nucleotide of an exon, abnormal splicing may also occur. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.676delG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Although this pathogenic variant has not been previously reported to our knowledge, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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