ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1023+3G>A

gnomAD frequency: 0.00016  dbSNP: rs374570848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697443 SCV000717249 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112956 SCV001270671 likely benign Stickler syndrome type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001112957 SCV001270672 uncertain significance Type II Collagenopathies 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001697443 SCV002172957 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs374570848, gnomAD 0.04%). This sequence change falls in intron 16 of the COL2A1 gene. It does not directly change the encoded amino acid sequence of the COL2A1 protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 508187). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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