ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) (rs1553313308)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670015 SCV000794823 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825553 SCV000966871 likely pathogenic Rare genetic deafness 2018-05-10 criteria provided, single submitter clinical testing The p.Ile1399fs variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studie s, though the ability of these studies to accurately detect indels may be limite d. This variant is predicted to cause a frameshift, which alters the protein?s a mino acid sequence beginning at position 1399 and leads to a premature terminati on codon 35 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the USH2A gene is an establi shed disease mechanism in autosomal recessive Usher syndrome. In summary, althou gh additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM2.

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