ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln) (rs1554334150)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621174 SCV000736601 uncertain significance Cardiovascular phenotype 2016-05-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786337 SCV000925113 uncertain significance not provided 2017-06-20 no assertion criteria provided provider interpretation Given the weak gene-disease relationship and lack of case data, we consider this variant a variant of uncertain significance and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The LAMA4 gene has only limited evidence to associate it with cardiomyopathy. LAMA4 variants have been reported in association with DCM, however only minimal evidence is available. Knoll et al (2007) identified LAMA4 as a candidate gene after a zebrafish screen then sequenced in patients with severe DCM and found a missense variant and a nonsense variant. We have not evaluated the strength of this evidence. This variant has not been seen in any cases of cardiomyopathy. I could find no published reports of the variant, nor did it have an entry in ClinVar. In silico analyses do not agree on the potential impact of this missense change on protein function. The variant is reported in 4 of 122,963 individuals listed in the Genome Aggregation Consortium Dataset (gnomAD; http://gnomad.broadinstitute.org/), which currently includes variant calls on >140,000 unrelated individuals of African, Asian, European, Latino, and Ashkenazi descent. Specifically, the variant was reported in 1 of 2740 individuals (MAF 0.01%) in the "Other" ancestry, 2 of 16,788 (MAF 0.0059%) individuals of Latino ancestry, and 1 of 15,391 individuals (MAF 0.0032%) of South Asian ancestry.

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