ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) (rs567385461)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117448 SCV000151662 uncertain significance not provided 2013-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000117448 SCV000617945 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LAMA2 gene. The D2180V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D2180V variant is observed in 40/11482 (0.35%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with LAMA2-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001079381 SCV000658742 likely benign Laminin alpha 2-related dystrophy 2020-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622662 SCV000742488 uncertain significance Inborn genetic diseases 2017-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Athena Diagnostics Inc RCV000117448 SCV000842627 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing

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