ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) (rs79632685)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244984 SCV000319422 uncertain significance Cardiovascular phenotype 2018-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000181064 SCV000233340 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing p.Val44Ile (GTC>ATC): c.130 G>A in exon 2 of the COL3A1 gene (NM_000090.3) A variant of uncertain significance has been identified in the COL3A1 gene. The V44I variant has been reported in one patient with feature suggestive of EDS, type IV and was inherited from a similarly affected father; however, this study determined that the pathogenicity of this variant is uncertain (Frank et al., 2015). The NHLBI Exome Sequencing Project, the 1000 Genomes Project and the Exome Aggregation Consortium report the V44I variant was observed in 0.4% alleles from individuals of African ancestry, indicating it may be a rare (benign) variant in this population. The V44I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, this substitution occurs at a position that is conserved across species and in silico analysis suggests that this variant is probably damaging to the protein structure/function.
Invitae RCV000226945 SCV000283453 likely benign Ehlers-Danlos syndrome, type 4 2017-12-04 criteria provided, single submitter clinical testing

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