ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg)

gnomAD frequency: 0.00001  dbSNP: rs558911841
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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 RCV001240996 SCV001413985 uncertain significance Cohen syndrome 2024-11-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 3339 of the VPS13B protein (p.Gln3339Arg). This variant is present in population databases (rs558911841, gnomAD 0.01%). 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: 966343). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Ambry Genetics RCV004679036 SCV005174719 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.10016A>G (p.Q3339R) alteration is located in exon 54 (coding exon 53) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 10016, causing the glutamine (Q) at amino acid position 3339 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001240996 SCV002082726 uncertain significance Cohen syndrome 2020-04-15 no assertion criteria provided clinical testing

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