ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.6155G>A (p.Cys2052Tyr)

gnomAD frequency: 0.00001  dbSNP: rs727503467
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Total submissions: 1
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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 RCV000151989 SCV000200547 likely pathogenic Rare genetic deafness 2013-04-16 criteria provided, single submitter clinical testing The Cys2052Tyr variant in TECTA has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the C ys2052Tyr variant may impact the protein. Additionally, this mutation exists in the ZP domain of the protein in which there is a strong association between miss ense mutations and dominant hearing loss (Naz 2003). Furthermore, this mutation was found to segregate with hearing loss in two affected family members. In summ ary, the available data suggests that this variant is likely pathogenic.

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