ClinVar Miner

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

dbSNP: rs111033408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994245 SCV001147664 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV000994245 SCV001574884 pathogenic not provided 2021-11-14 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. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has been observed in individuals with retinitis pigmentosa (PMID: 28041643, 30718709; Invitae). ClinVar contains an entry for this variant (Variation ID: 806350). This variant disrupts the p.Met4447 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29625443, 31872526, 31960602). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003455026 SCV004181880 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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