ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003129155 SCV003805399 uncertain significance not provided 2023-02-17 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
Ambry Genetics RCV003162188 SCV003875753 uncertain significance Inborn genetic diseases 2023-01-25 criteria provided, single submitter clinical testing The c.221C>A (p.A74D) alteration is located in exon 2 (coding exon 1) of the SCO2 gene. This alteration results from a C to A substitution at nucleotide position 221, causing the alanine (A) at amino acid position 74 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004560093 SCV005049389 uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2024-01-24 criteria provided, single submitter clinical testing

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