ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) (rs150070966)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342454 SCV000356809 uncertain significance Bardet-Biedl syndrome 16 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000399034 SCV000356810 uncertain significance Senior-Loken syndrome 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000522463 SCV000618631 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The T191I variant in the SDCCAG8 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T191I variant is observed in 21/10,386 (0.2%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The T191I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret T191I as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000763845 SCV000894774 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763845 SCV001016056 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2019-12-31 criteria provided, single submitter clinical testing

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