ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) (rs201026468)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041864 SCV000065560 uncertain significance not specified 2017-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Cys1900Gly va riant in USH2A has been reported as a homozygous variant in one individual with Usher syndrome, who was also homozygous for another variant of uncertain clinica l significance in USH2A (Bonnet 2016). The variant was also reported in two indi viduals with hearing loss and one individual with retinitis pigmentosa; however these individuals were heterozygous for the variant and did not carry a second v ariant (Haer-Wigman 2017, unpublished LMM data, ClinVar Variation ID: 4853). Thi s variant has also been identified in 0.38% (117/30776) of South Asian chromosom es, including one homozygous individual, by the genome Aggregation Database (gno mAD,http://gnomad.broadinstitute.org; dbSNP rs201026468). Computational predicti on tools and conservation analysis suggest that this variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, while the clinical significance of the p.Cys1900Gly variant is unc ertain, these data suggest that it is more likely to be benign.
Counsyl RCV000673611 SCV000798835 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV000903235 SCV001047693 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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