ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn)

gnomAD frequency: 0.00002  dbSNP: rs981008420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231022 SCV000627349 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 144 of the COL1A2 protein (p.Asp144Asn). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of COL1A2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 456839). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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