ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.195+71_195+73del

dbSNP: rs786205414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171987 SCV000055155 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227689 SCV003924217 uncertain significance Dilated cardiomyopathy 1JJ 2021-03-30 criteria provided, single submitter clinical testing LAMA4 NM_001105208.2 exon 2 p.Phe89del (c.266_268del): This variant has not been reported in the literature and is present in 0.06% (81/128678) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/6-112575084-GAGA-G). This variant is present in ClinVar (Variation ID:191693). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of one amino acid at position 89 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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