ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His) (rs73532636)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200106 SCV000250535 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LAMA4 gene. The Y1012H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant has been observed, both independently and in conjunction with additional cardiogenetic variants, in multiple unrelated individuals referred for cardiomyopathy genetic testing at GeneDx. The Y1012H variant is observed 28/24,030 (0.12%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016), indicating it may be a rare benign variant in this population. Nevertheless, Y1012H 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. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.
Ambry Genetics RCV000620435 SCV000736495 uncertain significance Cardiovascular phenotype 2015-10-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Invitae RCV000200106 SCV000773313 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing

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