ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu)

dbSNP: rs777314496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002204543 SCV002496030 uncertain significance Cohen syndrome 2022-01-29 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 60 p.Val3650Leu (c.10948G>T): This variant has not been reported in the literature but is present in 0.003% (1/30616) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-100871537-G-T?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools are unclear. Although this variant occurs in the exonic region, computational prediction tools suggest that it may alter splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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