ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.3G>A (p.Met1Ile)

dbSNP: rs1249678588
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Total submissions: 2
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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 RCV001724849 SCV001950221 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Met1? variant in C8orf37 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 a Variant of Uncertain Significance. 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 RCV002227534 SCV002507061 uncertain significance Cone-rod dystrophy 16 2022-05-04 criteria provided, single submitter curation The homozygous p.Met1? variant in C8orf37 was identified by our study in 1 individual with cone-rod dystrophy 16. The variant has not been previously reported in individuals with cone-rod dystrophy 16 and has been identified in 0.0009% (1/113644) of European non-Finnish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs1249678588). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM3_supporting (Richards 2015).

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