ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.999C>G (p.Val333=)

dbSNP: rs149556555
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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 RCV000525741 SCV000651478 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019964 SCV001181384 likely benign Hereditary cancer-predisposing syndrome 2015-08-10 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 RCV004543209 SCV004773567 likely benign SDHA-related disorder 2022-03-16 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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