Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199730 | SCV000250555 | uncertain significance | not specified | 2014-02-07 | criteria provided, single submitter | clinical testing | c.5423dupT: p.Ser1809LysfsX11 (S1809KfsX11) in exon 39 of the LAMA4 gene (NM_002290.3). The normal sequence with the base that is duplicated in braces is: GCCG{T}AAGC. Although rare, mutations in the LAMA4 gene have been reported in association with dilated cardiomyopathy (Knll R et al., 2007). The c.5423dupT variant in the LAMA4 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Serine 1809, changing it to a Lysine, and creating a stop codon at position 11 of the new reading frame, denoted p.Ser1809LysfsX11. This variant is expected to result in an abnormal protein product. The c.5423dupT variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. With the clinical and molecular information available at this time, we cannot definitively determine if c.5423dupT is a disease-causing mutation or a rare benign variant. This variant was found in CARDIOMYOPATHY |
Invitae | RCV000686019 | SCV000813522 | likely benign | Dilated cardiomyopathy 1JJ | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298257 | SCV003997152 | likely benign | Cardiovascular phenotype | 2023-03-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |