ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) (rs111033408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994245 SCV001147664 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV000994245 SCV001574884 likely pathogenic not provided 2020-07-13 criteria provided, single submitter clinical testing This variant, c.13335_13347delinsCTTG, is a complex variant that results in the deletion of five and insertion of two amino acids in the USH2A protein (p.Glu4445_Ser4449delinsAspLeu) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643, 30718709, Invitae). ClinVar contains an entry for this variant (Variation ID: 438013) Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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