ClinVar Miner

Submissions for variant NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)

dbSNP: rs1799747454
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268036 SCV001446629 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Mendelics RCV001255185 SCV002519819 pathogenic Optic atrophy 13 with retinal and foveal abnormalities 2022-05-04 criteria provided, single submitter clinical testing
3billion RCV001255185 SCV002521243 pathogenic Optic atrophy 13 with retinal and foveal abnormalities 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID:31298765). In silico tool predictions suggest no damaging effect of the variant on gene or gene product (REVEL: 0.24; 3Cnet: 0.14). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SSBP1 related disorder (ClinVar ID: VCV000977503 / PMID: 31298765 / 3billion dataset). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID:31298765). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV001268036 SCV002563981 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255185 SCV004244366 pathogenic Optic atrophy 13 with retinal and foveal abnormalities 2024-01-17 criteria provided, single submitter clinical testing Criteria applied: PS4,PS3_MOD,PS2_STR,PM2_SUP,PP1
GeneDx RCV001268036 SCV005328018 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect (PMID: 31550240, 31298765); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31550237, 35142387, 33671400, 31298765, 31550240, 36993412)
OMIM RCV001255185 SCV001431539 pathogenic Optic atrophy 13 with retinal and foveal abnormalities 2020-09-03 no assertion criteria provided literature only

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