ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)

gnomAD frequency: 0.00013  dbSNP: rs576577339
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442266 SCV001645214 likely benign Cohen syndrome 2024-01-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001442266 SCV003820437 uncertain significance Cohen syndrome 2021-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399230 SCV004105312 uncertain significance VPS13B-related disorder 2023-02-28 criteria provided, single submitter clinical testing The VPS13B c.9035C>G variant is predicted to result in the amino acid substitution p.Thr3012Ser. This variant has been reported as a variant of uncertain significance in an individual with autism (Mercati et al. 2017. PubMed ID: 27166760). This variant is reported in 0.10% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-100833562-C-G) and has conflicting interpretations of pathogenicity ranging from benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/1114508/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004038403 SCV004976275 uncertain significance Inborn genetic diseases 2024-01-24 criteria provided, single submitter clinical testing The c.9110C>G (p.T3037S) alteration is located in exon 50 (coding exon 49) of the VPS13B gene. This alteration results from a C to G substitution at nucleotide position 9110, causing the threonine (T) at amino acid position 3037 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001442266 SCV002082698 benign Cohen syndrome 2021-02-22 no assertion criteria provided clinical testing

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