ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2022+4G>A

dbSNP: rs886038865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252523 SCV000318705 uncertain significance Cardiovascular phenotype 2013-05-30 criteria provided, single submitter clinical testing Co-segregation data for this variant is currently unavailable. This variant has not been detected in conjunction with a pathogenic mutation to date. Allele frequency data in population-based cohorts is not currently available. This nucleotide position is not conserved in available vertebrate species, and the A-allele is present in most species.This splice prediction software does not predict a deleterious effect on splicing.This splice prediction software does not predict a deleterious effect on splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519951 SCV003520227 uncertain significance Ehlers-Danlos syndrome, type 4 2022-08-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 263630). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 29 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. It affects a nucleotide within the consensus splice site. 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. 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 may create or strengthen a splice site.

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