ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)

gnomAD frequency: 0.00031  dbSNP: rs150907052
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187616 SCV000241211 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing Reported in the heterozygous state in a patient with epilepsy, mild developmental delays and ADHD who also harbored a pathogenic variant in the SCN1A gene (de Lange et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32032478)
Invitae RCV000461893 SCV000543668 uncertain significance Progressive myoclonic epilepsy 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 170 of the GOSR2 protein (p.Asn170Ser). This variant is present in population databases (rs150907052, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 205631). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV000187616 SCV002563419 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336496 SCV002641924 uncertain significance Inborn genetic diseases 2018-01-31 criteria provided, single submitter clinical testing The p.N170S variant (also known as c.509A>G), located in coding exon 6 of the GOSR2 gene, results from an A to G substitution at nucleotide position 509. The asparagine at codon 170 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485269 SCV002791045 uncertain significance Progressive myoclonic epilepsy type 6 2022-02-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000187616 SCV003815094 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000187616 SCV001741875 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000187616 SCV001968846 uncertain significance not provided no assertion criteria provided clinical testing

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