ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) (rs202247792)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000031900 SCV000790969 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV001352555 SCV001547116 uncertain significance Laminin alpha 2-related dystrophy 2020-07-10 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 2627 of the LAMA2 protein (p.His2627Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with congenital muscular dystrophy (PMID: 20207543). ClinVar contains an entry for this variant (Variation ID: 38341). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
GeneReviews RCV000031900 SCV000054526 pathologic Merosin deficient congenital muscular dystrophy 2012-06-07 no assertion criteria provided curation Converted during submission to Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000031900 SCV000678247 likely pathogenic Merosin deficient congenital muscular dystrophy 2016-04-05 no assertion criteria provided clinical testing The observed variant c.7881T>G (p.H2627Q) is not reported in The 1000 Genomes or ExAC databases. However, it is reported by Geranmayeh et al., 2010. The in silico prediction of the variant is damaging by MutationTaster2, tolerated by SIFT.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.