ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)

gnomAD frequency: 0.00019  dbSNP: rs200996196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596067 SCV000703394 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596067 SCV001079151 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317294 SCV004021018 uncertain significance not specified 2023-06-13 criteria provided, single submitter clinical testing Variant summary: LAMA1 c.8447G>A (p.Arg2816Gln) results in a conservative amino acid change located in the Laminin G domain (IPR001791) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00056 in 251482 control chromosomes, predominantly at a frequency of 0.0066 within the East Asian subpopulation in the gnomAD database, including 1 homozygote. This suggests the variant may be a benign polymorphism. To our knowledge, no occurrence of c.8447G>A in individuals affected with Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign, and one as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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