ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)

gnomAD frequency: 0.00017  dbSNP: rs41317144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240325 SCV001216447 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-06-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 848478). This missense change has been observed in individual(s) with COL1A2-related conditions (PMID: 21520333). This variant is present in population databases (rs41317144, gnomAD 0.04%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 528 of the COL1A2 protein (p.Asn528Ser).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811631 SCV001472209 likely benign not provided 2019-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001811631 SCV004035783 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with a COL1A2-related disorder to our knowledge; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21520333, 18272325)

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