ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His)

gnomAD frequency: 0.00001  dbSNP: rs750815565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002242417 SCV001545051 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2020-06-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 1178 of the COL1A2 protein (p.Tyr1178His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs750815565, ExAC 0.001%). This variant has not been reported in the literature in individuals with COL1A2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276699 SCV002565585 uncertain significance Ehlers-Danlos syndrome 2021-11-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145605 SCV003833437 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing

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