ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1157+6C>G

gnomAD frequency: 0.00002  dbSNP: rs374768416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182348 SCV000234659 benign not specified 2014-06-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000821919 SCV000962693 uncertain significance Charcot-Marie-Tooth disease type 2 2024-01-04 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs374768416, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 200927). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001182769 SCV001348333 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing

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