ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003410781 SCV004113576 uncertain significance LAMA5-related disorder 2022-12-07 criteria provided, single submitter clinical testing The LAMA5 c.10744C>T variant is predicted to result in the amino acid substitution p.Arg3582Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.19% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-60885128-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003549097 SCV004265476 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985352 SCV005613354 likely benign Inborn genetic diseases 2024-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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