ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.687C>T (p.Ala229=)

gnomAD frequency: 0.00042  dbSNP: rs376919650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003640938 SCV000883799 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2023-09-06 criteria provided, single submitter clinical testing The ENG c.687C>T; p.Ala229Ala variant (rs376919650), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.02% (45/230158 alleles) in the Genome Aggregation Database, with an increased frequency of 0.1% in African Americans. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. Due to limited information, the clinical significance of the p.Ala229Ala variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085370 SCV001006120 benign Hereditary hemorrhagic telangiectasia 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360866 SCV002662902 likely benign Cardiovascular phenotype 2022-07-25 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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