ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)

gnomAD frequency: 0.00025  dbSNP: rs140090983
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312465 SCV000847001 likely benign Inborn genetic diseases 2016-08-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768364 SCV000899081 uncertain significance Cohen syndrome 2021-03-30 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 22 p.Thr1068= (c.3204A>G): This variant has not been reported in the literature but is present in 0.008% (3/34304) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/8-100443886-A-G). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768364 SCV001019208 likely benign Cohen syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001712735 SCV001942650 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000768364 SCV001454825 likely benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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