ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.174G>T (p.Gly58=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004011756 SCV004820632 uncertain significance Primary dilated cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing This synonymous variant causes a nucleotide substitution but does not change the encoded amino acid at codon 58 of the LMNA protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LMNA-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004994416 SCV005614299 likely benign Cardiovascular phenotype 2024-10-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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