ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs)

gnomAD frequency: 0.00006  dbSNP: rs782327744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 (Kn”ll 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.

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