ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.43G>C (p.Val15Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004732069 SCV005337196 uncertain significance LAMP2-related disorder 2024-07-17 no assertion criteria provided clinical testing The LAMP2 c.43G>C variant is predicted to result in the amino acid substitution p.Val15Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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