ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.236C>A (p.Ala79Asp)

dbSNP: rs1553261972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618926 SCV000737138 uncertain significance Cardiovascular phenotype 2021-02-10 criteria provided, single submitter clinical testing The p.A79D variant (also known as c.236C>A), located in coding exon 1 of the LMNA gene, results from a C to A substitution at nucleotide position 236. The alanine at codon 79 is replaced by aspartic acid, an amino acid with dissimilar properties. This variant has been detected in an individual reported to have dilated cardiomyopathy and 10.33% abnormal nuclei in fibroblast cultures (van Tienen FHJ et al. Eur J Hum Genet, 2019 03;27:389-399). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000653951 SCV000775841 uncertain significance Charcot-Marie-Tooth disease type 2 2021-07-20 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 30420677). ClinVar contains an entry for this variant (Variation ID: 519114). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 79 of the LMNA protein (p.Ala79Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid.

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