ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)

gnomAD frequency: 0.00001  dbSNP: rs1365914320
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702734 SCV000831601 uncertain significance Developmental and epileptic encephalopathy, 8 2022-08-31 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 579449). This variant has not been reported in the literature in individuals affected with ARHGEF9-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 485 of the ARHGEF9 protein (p.Gly485Ser).
Athena Diagnostics RCV000991545 SCV001143055 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000991545 SCV005192431 uncertain significance not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Strasbourg University Hospital RCV001249525 SCV001423515 uncertain significance Autism spectrum disorder 2019-12-01 no assertion criteria provided clinical testing

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