ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.664C>T (p.His222Tyr)

dbSNP: rs28928901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV005402800 SCV006064681 uncertain significance Cardiomyopathy 2024-10-28 criteria provided, single submitter clinical testing This missense variant replaces histidine with tyrosine at codon 222 of the LMNA protein. Computational prediction tool is inconclusive regarding the impact of this variant on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in homozygous state an individual affected with Emery-Dreifuss muscular dystrophy, as well as in both heterozygous unaffected carrier parents (PMID: 10739764, 14659775). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
OMIM RCV000015583 SCV000035848 pathogenic Emery-Dreifuss muscular dystrophy 3, autosomal recessive 2000-04-01 no assertion criteria provided literature only
GeneReviews RCV004577319 SCV000058064 not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant no assertion provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057440 SCV000088554 not provided not provided no assertion provided not provided

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