ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser)

gnomAD frequency: 0.00005  dbSNP: rs764775015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350891 SCV001545318 uncertain significance Cohen syndrome 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368151 SCV002662363 uncertain significance Inborn genetic diseases 2018-01-19 criteria provided, single submitter clinical testing The p.T2353S variant (also known as c.7058C>G), located in coding exon 38 of the VPS13B gene, results from a C to G substitution at nucleotide position 7058. The threonine at codon 2353 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001350891 SCV002082632 uncertain significance Cohen syndrome 2021-01-11 no assertion criteria provided clinical testing

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