ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) (rs150084275)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037398 SCV000061055 uncertain significance not specified 2013-01-04 criteria provided, single submitter clinical testing The Ala281Gly variant in LAMA4 has not been reported in the literature nor previ ously detected by our laboratory. It is present in 3/8600 European American chro mosomes from a large population screened by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/; dbSNP rs150084275). Alanine (Ala) at position 281 is not evolutionarily conserved and this variant (Ala281Gly) is present in another mammalian species, suggesting that it may be tolerated. Computational an alyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) sugge st that the Ala281Gly variant may not impact the protein, though this informatio n is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the Ala281Gly variant.
Invitae RCV000858173 SCV000287337 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000037398 SCV000715497 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000227416 SCV000734456 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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