ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1562G>T (p.Gly521Val) (rs794728596)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182371 SCV000234702 likely pathogenic not provided 2015-09-04 criteria provided, single submitter clinical testing p.Gly521Val (GGC>GTC): c.1562 G>T in exon 9 of the LMNA gene (NM_170707.2). The G521V variant in the LMNA gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. The NHLBI ESP Exome Variant Server reports G521V was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. G521V is a conservative amino acid substitution as these residues share similar properties, and are least likely to impact secondary structure. However, the G521 residue is highly conserved across species, and in silico analysis predicts G521V is damaging to the protein structure/function. Additionally, mutations in nearby residues (W520G, W520S, G523R) have been reported in association with cardiomyopathy or laminopathy, further supporting the functional importance of this region of the protein. Therefore, G521V is a good candidate for a disease-causing mutation. The variant is found in LMNA panel(s).

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