ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.990C>T (p.Tyr330=)

gnomAD frequency: 0.00001  dbSNP: rs370547766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537496 SCV000651476 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384225 SCV002695846 likely benign Hereditary cancer-predisposing syndrome 2020-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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