ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)

gnomAD frequency: 0.00130  dbSNP: rs35555197
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000677022 SCV000252088 uncertain significance not provided 2023-02-27 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
Fulgent Genetics, Fulgent Genetics RCV000765862 SCV000897258 uncertain significance Coenzyme Q10 deficiency, primary, 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000677022 SCV001120828 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294075 SCV002587475 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323448 SCV004029604 uncertain significance not specified 2023-07-21 criteria provided, single submitter clinical testing Variant summary: PDSS2 c.667G>A (p.Val223Ile) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0013 in 246528 control chromosomes (gnomAD). To our knowledge, no occurrence of c.667G>A in individuals affected with Coenzyme Q10 Deficiency, Primary, 3 and no experimental evidence demonstrating its impact on protein function have been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=4) and likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000677022 SCV004032692 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PDSS2: BS1
Baylor Genetics RCV000765862 SCV004040694 uncertain significance Coenzyme Q10 deficiency, primary, 3 2023-07-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677022 SCV000802855 uncertain significance not provided 2018-01-11 no assertion criteria provided clinical testing

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