ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) (rs111033225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037854 SCV000061516 uncertain significance not specified 2013-05-22 criteria provided, single submitter clinical testing The Ala149Thr variant in GJB2 has been identified in 6 probands with hearing los s and in 1/584 control chromosomes (Toth 2004, Rabionet 2000, Hashemi 2012, Bliz netz 2012, LMM unpublished data). Only one of these probands carried a second pa thogenic variant on the other allele of GJB2 (Toth 2003). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIF T) suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional infor mation is needed to fully assess the variant's clinical significance.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000505533 SCV000599752 uncertain significance Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000505533 SCV000792260 uncertain significance Deafness, autosomal recessive 1A 2017-06-13 criteria provided, single submitter clinical testing

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