ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.3374G>A (p.Gly1125Asp)

gnomAD frequency: 0.00001  dbSNP: rs1265988454
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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 RCV003392873 SCV004119098 uncertain significance LAMA5-related disorder 2023-02-07 criteria provided, single submitter clinical testing The LAMA5 c.3374G>A variant is predicted to result in the amino acid substitution p.Gly1125Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00093% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-60907682-C-T). 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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