ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.1448A>T (p.Glu483Val)

gnomAD frequency: 0.00001  dbSNP: rs1183950648
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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 RCV003984728 SCV004796102 uncertain significance LAMA5-related disorder 2023-12-06 no assertion criteria provided clinical testing The LAMA5 c.1448A>T variant is predicted to result in the amino acid substitution p.Glu483Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0% of alleles in individuals of African 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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