ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5129A>G (p.Asn1710Ser)

gnomAD frequency: 0.00001  dbSNP: rs1219557048
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705146 SCV000834131 uncertain significance Dilated cardiomyopathy 1JJ 2018-06-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1703 of the LAMA4 protein (p.Asn1703Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LAMA4-related disease. This variant is not present in population databases (ExAC no frequency).

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