ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1407G>A (p.Pro469=)

gnomAD frequency: 0.00048  dbSNP: rs41302657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858828 SCV000283525 benign Hereditary hemorrhagic telangiectasia 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000229946 SCV000477323 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001651082 SCV001866938 likely benign not provided 2019-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17384219)
Ambry Genetics RCV002390596 SCV002698924 likely benign Cardiovascular phenotype 2019-01-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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