ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)

gnomAD frequency: 0.00006  dbSNP: rs142048329
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171966 SCV000055146 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000692677 SCV000820513 uncertain significance Dilated cardiomyopathy 1JJ 2023-09-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 191678). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs142048329, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1806 of the LAMA4 protein (p.Gly1806Ser).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769186 SCV000900562 uncertain significance Cardiomyopathy 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000692677 SCV002794504 uncertain significance Dilated cardiomyopathy 1JJ 2021-09-15 criteria provided, single submitter clinical testing

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