ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.800_802dup (p.Tyr267dup)

dbSNP: rs2102882045
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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 RCV002001266 SCV002269925 uncertain significance Charcot-Marie-Tooth disease type 2 2023-11-24 criteria provided, single submitter clinical testing This variant, c.800_802dup, results in the insertion of 1 amino acid(s) of the LMNA protein (p.Tyr267dup), 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 (Invitae). ClinVar contains an entry for this variant (Variation ID: 1486141). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Revvity Omics, Revvity RCV003130660 SCV003816999 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing

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