ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del)

dbSNP: rs1236948038
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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 RCV002009051 SCV002276983 uncertain significance Cohen syndrome 2022-10-17 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1488073). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant, c.11889_11891del, results in the deletion of 1 amino acid(s) of the VPS13B protein (p.Ser3964del), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences RCV004744200 SCV005354335 uncertain significance VPS13B-related disorder 2024-03-06 no assertion criteria provided clinical testing The VPS13B c.11814_11816delATC variant is predicted to result in an in-frame deletion (p.Ser3939del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/). 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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