ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1119A>G (p.Pro373=)

dbSNP: rs1428505412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866761 SCV001007899 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434092 SCV002749732 likely benign Hereditary cancer-predisposing syndrome 2020-01-22 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.
PreventionGenetics, part of Exact Sciences RCV004538244 SCV004713672 likely benign SDHA-related disorder 2021-09-14 no assertion criteria provided 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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