ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.10521G>A (p.Met3507Ile)

dbSNP: rs779985791
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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 RCV003414467 SCV004107007 uncertain significance LAMA5-related disorder 2023-07-27 criteria provided, single submitter clinical testing The LAMA5 c.10521G>A variant is predicted to result in the amino acid substitution p.Met3507Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), 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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