ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.3727_3744dup (p.Leu1248_Thr1249insProProGlyLeuProLeu)

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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 RCV004746765 SCV005364463 uncertain significance LAMA5-related disorder 2024-04-08 no assertion criteria provided clinical testing The LAMA5 c.3727_3744dup18 variant is predicted to result in an in-frame duplication (p.Pro1243_Leu1248dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0083% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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