ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.928C>G (p.His310Asp)

gnomAD frequency: 0.00006  dbSNP: rs374968791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196027 SCV000250550 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing Reported in association with DCM; however, specific clinical information was not provided (Mazzarotto et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31983221)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770225 SCV000901655 uncertain significance Cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001303761 SCV001493017 uncertain significance Dilated cardiomyopathy 1JJ 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 303 of the LAMA4 protein (p.His303Asp). This variant is present in population databases (rs374968791, gnomAD 0.009%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 213600). 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. 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.
Ambry Genetics RCV002444794 SCV002682790 uncertain significance Cardiovascular phenotype 2021-11-24 criteria provided, single submitter clinical testing The p.H303D variant (also known as c.907C>G), located in coding exon 7 of the LAMA4 gene, results from a C to G substitution at nucleotide position 907. The histidine at codon 303 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV001303761 SCV002786000 uncertain significance Dilated cardiomyopathy 1JJ 2021-08-25 criteria provided, single submitter clinical testing

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