ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)

gnomAD frequency: 0.00001  dbSNP: rs772811492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486718 SCV000571323 likely pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28087566)
Blueprint Genetics RCV000486718 SCV000927652 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV002230946 SCV001386720 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 702 of the COL5A2 protein (p.Gly702Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs772811492, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 421973). 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 C65"). 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.
AiLife Diagnostics, AiLife Diagnostics RCV000486718 SCV002502421 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing

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