ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly)

gnomAD frequency: 0.00001  dbSNP: rs1294611505
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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 RCV001232399 SCV001404956 uncertain significance Cohen syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 642 of the VPS13B protein (p.Ser642Gly). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 959110). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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 RCV002563221 SCV003590709 uncertain significance Inborn genetic diseases 2021-11-05 criteria provided, single submitter clinical testing The c.1924A>G (p.S642G) alteration is located in exon 14 (coding exon 13) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 1924, causing the serine (S) at amino acid position 642 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001232399 SCV002079496 uncertain significance Cohen syndrome 2020-03-31 no assertion criteria provided clinical testing

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