ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.4969G>A (p.Val1657Met) (rs370971334)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724455 SCV000229766 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000177826 SCV000613970 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764628 SCV000895736 uncertain significance Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001248058 SCV001421522 uncertain significance Laminin alpha 2-related dystrophy 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1657 of the LAMA2 protein (p.Val1657Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs370971334, ExAC 0.04%). This variant has not been reported in the literature in individuals with LAMA2-related disease. ClinVar contains an entry for this variant (Variation ID: 196937). 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.
GenomeConnect, ClinGen RCV001248058 SCV001423457 not provided Laminin alpha 2-related dystrophy no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-08-2015 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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