ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4321C>A (p.His1441Asn)

dbSNP: rs1562477412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692430 SCV000820255 uncertain significance LAMA2-related muscular dystrophy 2018-04-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 1441 of the LAMA2 protein (p.His1441Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LAMA2-related disease. 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. 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.
Athena Diagnostics RCV000712187 SCV000842618 uncertain significance not provided 2018-10-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712187 SCV005189234 uncertain significance not provided criteria provided, single submitter not provided

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