ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)

gnomAD frequency: 0.00001  dbSNP: rs774455419
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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 RCV002694895 SCV002991164 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 282 of the COL18A1 protein (p.Thr282Met). This variant is present in population databases (rs774455419, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. 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.
New York Genome Center RCV003448464 SCV004176040 uncertain significance Knobloch syndrome 1 2023-05-05 criteria provided, single submitter clinical testing

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