ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2352C>T (p.Val784=)

gnomAD frequency: 0.00003  dbSNP: rs767560978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen RCV004549759 SCV005043315 uncertain significance Pulmonary arterial hypertension 2024-05-03 reviewed by expert panel curation The NM_001204.7(BMPR2) c.2352C>T variant is a synonymous (silent) variant (p.Val784=). This variant is present in gnomAD v2.1.1 controls at a frequency of 0.00002 (PM2_supporting). It is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP = 0.207 (BP7). In summary, this variant is classified as a variant of uncertain significance for pulmonary arterial hypertension based on the ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: BP7, PM2_supporting. (VCEP specifications version 1.1, 1/18/2024)
Illumina Laboratory Services, Illumina RCV000389236 SCV000426394 uncertain significance Pulmonary hypertension, primary, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001415645 SCV001617806 likely benign Primary pulmonary hypertension 2018-12-24 criteria provided, single submitter clinical testing

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