ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile)

gnomAD frequency: 0.00001  dbSNP: rs782547342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852565 SCV000995266 uncertain significance Brugada syndrome 2019-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001305785 SCV001495132 uncertain significance Dilated cardiomyopathy 1JJ 2020-03-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with sudden unexplained death (PMID: 28986455). ClinVar contains an entry for this variant (Variation ID: 691713). This variant is present in population databases (rs782547342, ExAC 0.003%). This sequence change replaces serine with isoleucine at codon 448 of the LAMA4 protein (p.Ser448Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV001305785 SCV002776478 uncertain significance Dilated cardiomyopathy 1JJ 2021-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693415 SCV005189205 uncertain significance not provided criteria provided, single submitter not provided

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