ClinVar Miner

Submissions for variant NM_004423.4(DVL3):c.694-3C>T

gnomAD frequency: 0.00006  dbSNP: rs202033633
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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 RCV001925349 SCV002169854 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DVL3-related conditions. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1403397). This variant is present in population databases (rs202033633, gnomAD 0.04%). This sequence change falls in intron 6 of the DVL3 gene. It does not directly change the encoded amino acid sequence of the DVL3 protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003976254 SCV004789535 likely benign DVL3-related disorder 2019-02-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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