ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.753C>T (p.Asp251=)

gnomAD frequency: 0.00015  dbSNP: rs151112594
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198160 SCV000252223 benign not specified 2014-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV002492904 SCV002796771 likely benign Mitochondrial complex 4 deficiency, nuclear type 4 2021-10-15 criteria provided, single submitter clinical testing
Invitae RCV002515430 SCV003491812 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541265 SCV004758010 likely benign SCO1-related disorder 2020-03-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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