ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser)

gnomAD frequency: 0.00003  dbSNP: rs371933414
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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 RCV001919823 SCV002159076 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 974 of the COL18A1 protein (p.Gly974Ser). This variant is present in population databases (rs371933414, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1395895). 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.
Fulgent Genetics, Fulgent Genetics RCV002503520 SCV002778618 uncertain significance Glaucoma, primary closed-angle; Knobloch syndrome 1 2022-02-15 criteria provided, single submitter clinical testing

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