ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)

gnomAD frequency: 0.00001  dbSNP: rs752992414
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672902 SCV000798054 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047811 SCV001211793 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This variant, c.5438_5443del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the USH2A protein (p.Ser1813_Ser1815delinsCys). This variant is present in population databases (rs752992414, gnomAD 0.002%). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 32467589, 33576794; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 556843). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074368 SCV001239944 uncertain significance Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472149 SCV004200722 likely pathogenic Retinitis pigmentosa 39 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276247 SCV001462255 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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