ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)

dbSNP: rs1250355311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799386 SCV002041916 uncertain significance Cardiomyopathy 2019-08-27 criteria provided, single submitter clinical testing
New York Genome Center RCV003227992 SCV003925215 uncertain significance Dilated cardiomyopathy 1A; Familial partial lipodystrophy, Dunnigan type 2022-07-08 criteria provided, single submitter clinical testing The c.1712G>A p.(Ser571Asn) variant in the LMNA gene has been deposited in ClinVar in an individual with Cardiomyopathy [ClinVarID: 1329343] as Variant of Uncertain Significance. The c.1712G>A variant is absent from population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.1712G>A variant in LMNA is located in exon 11 of this 12-exon gene, and predicted to replace a moderately conserved Serine amino acid with Asparagine at position 571 of the encoded protein. In silico predictions are inconclusive of the variant's effect [(CADD v1.6 = 22.5, REVEL = 0.320)]; however, there are no functional studies to support or refute these predictions. Based on available evidence this c.1712G>A p.(Ser571Asn) variant identified in LMNA is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005050411 SCV005681135 uncertain significance Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 2024-01-25 criteria provided, single submitter clinical testing

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