ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)

dbSNP: rs753709808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001096096 SCV001252285 uncertain significance Bardet-Biedl syndrome 16 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001101541 SCV001258157 uncertain significance Senior-Loken syndrome 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001096096 SCV001523677 uncertain significance Bardet-Biedl syndrome 16 2019-05-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001856302 SCV002211240 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-08-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 27486776). ClinVar contains an entry for this variant (Variation ID: 873717). This variant is present in population databases (rs753709808, ExAC 0.06%). This sequence change replaces glutamic acid with lysine at codon 532 of the SDCCAG8 protein (p.Glu532Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Fulgent Genetics, Fulgent Genetics RCV001856302 SCV002784094 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-08-29 criteria provided, single submitter clinical testing

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