ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) (rs727503492)

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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, Partners HealthCare Personalized Medicine RCV000152060 SCV000200680 uncertain significance not specified 2013-05-15 criteria provided, single submitter clinical testing The Met384Ile variant in TMPRSS3 has not been reported in individuals with heari ng loss or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional d ata is needed to determine the clinical significance of this variant.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477944 SCV000536725 uncertain significance Deafness, autosomal recessive 8 2015-03-09 no assertion criteria provided research

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