ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1083T>A (p.Asn361Lys)

dbSNP: rs1057518612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414207 SCV000492412 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LAMA4 gene. The N354K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N354K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.

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