ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)

dbSNP: rs767090801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002004102 SCV002290995 uncertain significance not provided 2022-10-05 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1505525). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. This variant is present in population databases (rs767090801, gnomAD 0.05%). This sequence change replaces glycine with arginine at codon 910 of the COL18A1 protein (p.Gly910Arg). There is a moderate physicochemical difference between glycine and arginine.
MGZ Medical Genetics Center RCV002290834 SCV002581682 likely pathogenic Knobloch syndrome 1 2022-07-22 criteria provided, single submitter clinical testing

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