ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3511G>T (p.Val1171Leu)

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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 RCV004688646 SCV005174731 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.3511G>T (p.V1171L) alteration is located in exon 24 (coding exon 23) of the VPS13B gene. This alteration results from a G to T substitution at nucleotide position 3511, causing the valine (V) at amino acid position 1171 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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