Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171987 | SCV000055155 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Center for Genomics, |
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. |