ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1813G>T (p.Ala605Ser)

dbSNP: rs2102901753
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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 RCV001973281 SCV002251916 uncertain significance Charcot-Marie-Tooth disease type 2 2024-12-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 605 of the LMNA protein (p.Ala605Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1470489). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt LMNA protein function with a positive predictive value of 80%. 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.
All of Us Research Program, National Institutes of Health RCV004011017 SCV004821956 uncertain significance Primary dilated cardiomyopathy 2023-06-28 criteria provided, single submitter clinical testing

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