ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.203G>A (p.Ser68Asn)

gnomAD frequency: 0.00002  dbSNP: rs767557634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002039212 SCV002107874 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1349711). This variant has not been reported in the literature in individuals affected with SCO1-related conditions. This variant is present in population databases (rs767557634, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 68 of the SCO1 protein (p.Ser68Asn).
Fulgent Genetics, Fulgent Genetics RCV002503363 SCV002778804 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 4 2021-11-05 criteria provided, single submitter clinical testing

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