ClinVar Miner

Submissions for variant NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)

dbSNP: rs1591299252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002250440 SCV002520685 pathogenic Late-onset retinal degeneration 2022-05-27 criteria provided, single submitter clinical testing The variant c.562C>A (p.(Pro188Thr)) in exon 15 of the C1QTNF5-gene is not found in the gnomAD database, it affects a moderately conserved nucleotide, a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Pro and Thr. This mutation has already been described to be pathogenic in the literature (PMID: 33949280) and functional studies have shown a deleterious effect of this variant on protein function (PMID: 28939808). Also, p.Pro188Thr is a missense mutation at an amino acid residue where another missense change determined to be pathogenic has been already described (p.Pro188Leu, PMID: 32036094). This variant has a pathogenic computational verdict based in silico prediction models. ACMG criteria used for classification: PS3, PM2, PM5, PP2, PP3, PP5.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816986 SCV005072534 likely pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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