ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=)

gnomAD frequency: 0.00088  dbSNP: rs140309222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863288 SCV001003924 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000863288 SCV001752287 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427102 SCV002681029 likely benign Inborn genetic diseases 2018-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003457850 SCV004178017 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987725 SCV004804088 likely benign not specified 2024-01-03 criteria provided, single submitter clinical testing Variant summary: C1orf84 c.8256G>A alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00023 in 282826 control chromosomes (gnomAD). To our knowledge, no occurrence of c.8256G>A in individuals affected with Early Infantile Epileptic Encephalopathy 18 and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV000863288 SCV005259669 likely benign not provided criteria provided, single submitter not provided

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