ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.148-17A>G

dbSNP: rs2132221851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376271 SCV001573354 uncertain significance Cohen syndrome 2021-04-08 criteria provided, single submitter research The VPS13B c.148-17A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001376271 SCV002223981 uncertain significance Cohen syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the VPS13B gene. It does not directly change the encoded amino acid sequence of the VPS13B protein. This variant is not present in population databases (gnomAD no frequency). 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: 1065680). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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