ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) (rs267606631)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000211710 SCV000205640 likely pathogenic Rare genetic deafness 2016-09-11 criteria provided, single submitter clinical testing The p.Glu241Lys variant in ACTG1 has been reported in 3 individuals with hearing loss, segregated in 5 relatives with hearing loss from 2 families (Morin 2009, Miyagawa 2015, LMM unpublished data), and was absent from large population studi es. Functional studies performed in yeast suggested that the variant may impact the hair cell's cytoskeletal structure (Morin 2009). Computational prediction to ols and conservation analyses suggest that this variant may impact the protein. In summary, although additional studies are required to fully establish its clin ical significance, this variant is likely pathogenic for autosomal dominant hear ing loss.
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000019987 SCV000929847 likely pathogenic Deafness, autosomal dominant 20 criteria provided, single submitter research
OMIM RCV000019987 SCV000040285 pathogenic Deafness, autosomal dominant 20 2009-08-15 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059728 SCV000091298 not provided not provided no assertion provided not provided

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