ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)

dbSNP: rs775159300
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345676 SCV000348854 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284978 SCV000348855 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342371 SCV000348856 uncertain significance Mandibuloacral dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380612 SCV000348857 uncertain significance Familial partial lipodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288324 SCV000348858 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345676 SCV000348859 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400023 SCV000348860 uncertain significance Congenital muscular dystrophy due to LMNA mutation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310763 SCV000348861 uncertain significance Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348346 SCV000348862 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392349 SCV000348863 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313247 SCV000348864 uncertain significance Lethal tight skin contracture syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345676 SCV000348865 uncertain significance Hutchinson-Gilford syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262711 SCV001440681 uncertain significance Dilated cardiomyopathy 1A 2019-01-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001814979 SCV002061992 uncertain significance not specified 2018-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000288324 SCV003509116 uncertain significance Charcot-Marie-Tooth disease type 2 2023-08-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LMNA protein function. ClinVar contains an entry for this variant (Variation ID: 292838). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is present in population databases (rs775159300, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 329 of the LMNA protein (p.Arg329Ser).
Revvity Omics, Revvity RCV003488506 SCV004236252 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing

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