ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2869G>A (p.Val957Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003780341 SCV004605339 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366506 SCV005032275 uncertain significance Cardiovascular phenotype 2023-10-26 criteria provided, single submitter clinical testing The p.V957I variant (also known as c.2869G>A), located in coding exon 44 of the COL1A2 gene, results from a G to A substitution at nucleotide position 2869. The valine at codon 957 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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