ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3466G>A (p.Ala1156Thr)

gnomAD frequency: 0.00005  dbSNP: rs754037826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329611 SCV001521101 uncertain significance Knobloch syndrome 2019-05-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863205 SCV002263341 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1153 of the COL18A1 protein (p.Ala1153Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1028544). 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.
PreventionGenetics, part of Exact Sciences RCV004740667 SCV005366847 uncertain significance COL18A1-related disorder 2024-08-16 no assertion criteria provided clinical testing The COL18A1 c.3997G>A variant is predicted to result in the amino acid substitution p.Ala1333Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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