ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)

gnomAD frequency: 0.00003  dbSNP: rs886043216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320095 SCV000338966 uncertain significance not provided 2016-01-28 criteria provided, single submitter clinical testing
Invitae RCV001859631 SCV002110318 uncertain significance Cohen syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change affects codon 2441 of the VPS13B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the VPS13B protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 285793). 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.
PreventionGenetics, part of Exact Sciences RCV003897618 SCV004713918 likely benign VPS13B-related disorder 2023-07-31 criteria provided, single submitter 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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