ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1124C>A (p.Ala375Asp)

dbSNP: rs886042239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000339961 SCV000332818 uncertain significance not provided 2015-07-20 criteria provided, single submitter clinical testing
Invitae RCV000697301 SCV000825901 uncertain significance Charcot-Marie-Tooth disease type 2 2022-03-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 281821). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 375 of the LMNA protein (p.Ala375Asp).

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