ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) (rs145301300)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222227 SCV000271894 uncertain significance not specified 2015-05-01 criteria provided, single submitter clinical testing The p.Asn85Ser variant in LAMA4 has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/10402 African chromosomes by t he Exome Aggregation Consortium (ExAC,; dbSNP rs1 45301300). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Asn85Ser variant is uncertain.
GeneDx RCV000222227 SCV000577063 uncertain significance not specified 2017-04-11 criteria provided, single submitter clinical testing A second variant of uncertain significance has been identified in the LAMA4 gene. The N85S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 6/10,402 (0.06%) alleles from individuals of African ancestry in the ExAC dataset (Lek et al., 2016). The N85S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, 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.
Ambry Genetics RCV000620669 SCV000737076 uncertain significance Cardiovascular phenotype 2016-03-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000866434 SCV001007524 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing

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