ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1058AGC[2] (p.Gln355del)

dbSNP: rs267607635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005089467 SCV005834271 uncertain significance Charcot-Marie-Tooth disease type 2 2024-08-22 criteria provided, single submitter clinical testing This variant, c.1064_1066del, results in the deletion of 1 amino acid(s) of the LMNA protein (p.Gln355del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 20848652, 29095976). This variant is also known as delQ355. Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects LMNA function (PMID: 16218190). 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.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057224 SCV000088337 not provided not provided no assertion provided not provided

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