ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5030G>A (p.Arg1677His)

gnomAD frequency: 0.00007  dbSNP: rs782174781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196258 SCV000250562 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002517181 SCV002979591 uncertain significance Dilated cardiomyopathy 1JJ 2023-06-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 213609). 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. This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782174781, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1670 of the LAMA4 protein (p.Arg1670His).

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