ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2519T>G (p.Val840Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005292996 SCV005958737 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.2519T>G (p.V840G) alteration is located in exon 18 (coding exon 17) of the VPS13B gene. This alteration results from a T to G substitution at nucleotide position 2519, causing the valine (V) at amino acid position 840 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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