ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser)

gnomAD frequency: 0.00001  dbSNP: rs201052196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564357 SCV001787513 likely benign not provided 2020-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440802 SCV002749002 uncertain significance Cardiovascular phenotype 2021-06-03 criteria provided, single submitter clinical testing The p.N918S variant (also known as c.2753A>G), located in coding exon 42 of the COL1A2 gene, results from an A to G substitution at nucleotide position 2753. The asparagine at codon 918 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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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