ClinVar Miner

Submissions for variant NM_001365068.1(ASTN2):c.2806+26861G>A (rs754554333)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727091 SCV000620599 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing The R390C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R390C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This 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. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000530829 SCV000636500 uncertain significance Bardet-Biedl syndrome 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 390 of the TRIM32 protein (p.Arg390Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs754554333, ExAC 0.006%). This variant has not been reported in the literature in individuals with TRIM32-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727091 SCV000705574 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766043 SCV000897482 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166670 SCV001329068 uncertain significance Bardet-Biedl syndrome 11 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 Clinical Services Laboratory,Illumina RCV001166671 SCV001329069 uncertain significance Sarcotubular myopathy 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.

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