ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.471G>T (p.Thr157=)

dbSNP: rs150645079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236489 SCV001409214 uncertain significance Charcot-Marie-Tooth disease type 2 2019-07-26 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with limb-girdle muscular dystrophy (PMID: 22326558). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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. This sequence change affects codon 157 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 variant is not present in population databases (ExAC no frequency).

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