ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1122C>T (p.His374=) (rs143715750)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150949 SCV000198611 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing His374His in exon 6 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs143715750).
Ambry Genetics RCV000242405 SCV000319676 likely benign Cardiovascular phenotype 2015-05-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725445 SCV000336992 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV001046037 SCV001209922 uncertain significance Charcot-Marie-Tooth disease, type 2 2019-07-02 criteria provided, single submitter clinical testing This sequence change affects codon 374 of the LMNA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LMNA protein. This sequence change has not been published in the literature and is present in population databases (rs143715750, 0.02%). This silent change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change. Although there is no indication that this sequence change affects protein function or causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV001182014 SCV001347328 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing

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