ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.10133T>G (p.Leu3378Arg)

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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 RCV004747941 SCV005348798 uncertain significance LAMA5-related disorder 2024-03-20 no assertion criteria provided clinical testing The LAMA5 c.10133T>G variant is predicted to result in the amino acid substitution p.Leu3378Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of Latino 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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