ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.806G>A (p.Arg269Gln)

gnomAD frequency: 0.00013  dbSNP: rs199832638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600547 SCV000710885 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing p.Arg269Gln in exon 4 of BSND: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >10 mammals have a glutamine (Gln) at this position. In addition, computatio nal prediction tools do not suggest a high likelihood of impact to the protein. It has been identified in 10/66322 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199832638).
Labcorp Genetics (formerly Invitae), Labcorp RCV002532710 SCV003292074 uncertain significance not provided 2022-05-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 269 of the BSND protein (p.Arg269Gln). This variant is present in population databases (rs199832638, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BSND-related conditions. ClinVar contains an entry for this variant (Variation ID: 504521). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV002532710 SCV005081509 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV002532710 SCV005257968 likely benign not provided criteria provided, single submitter not provided

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