ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1675A>C (p.Lys559Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV005233176 SCV005725461 likely pathogenic Usher syndrome type 2A 2024-11-28 criteria provided, single submitter clinical testing The variant has been identified in compound heterozygosity in the proband with c.11864G>A; the same arrangement has also found in the affected brother. This variant has been classified as likely pathogenic according to the ACMG criteria: PM1, PM2, PM3_Supporting, PP1, PP3.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236850 SCV005884981 likely pathogenic Usher syndrome 2024-12-20 criteria provided, single submitter clinical testing Variant summary: USH2A c.1675A>C (p.Lys559Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251222 control chromosomes (gnomAD). c.1675A>C has been reported in the literature in individuals affected with inherited retinal disease (Zhu_2021, Karali_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 32675063, 36460718). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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