ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)

dbSNP: rs1842216995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724851 SCV001950227 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Gln310Ter variant in CDHR1 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002227535 SCV002507067 likely pathogenic Cone-rod dystrophy 15 2022-05-04 criteria provided, single submitter curation The homozygous p.Gln310Ter variant in CDHR1 was identified by our study in 1 individual with cone-rod dystrophy 15. The variant has been reported in 1 individual of unknown ethnicity with cone-rod dystrophy 15 (PMID: 28765526), and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 310, which is predicted to lead to a truncated or absent protein. Loss of function of the CDHR1 gene is a moderately established disease mechanism in autosomal recessive cone-rod dystrophy 15. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_strong, PM2, PM3_supporting (Richards 2015).
OMIM RCV003222341 SCV003852637 pathogenic Macular dystrophy, retinal, 5 2023-03-30 no assertion criteria provided literature only

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