ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)

dbSNP: rs727504862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156217 SCV000205933 uncertain significance not specified 2013-12-03 criteria provided, single submitter clinical testing The Ala174Gly variant in ACTG1 has not been previously reported in individuals w ith hearing loss or in large population studies. Computational analyses (biochem ical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, add itional data is needed to determine the clinical significance of this variant.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477934 SCV000536865 uncertain significance Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2016-04-27 no assertion criteria provided research

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