ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.453C>A (p.Val151=)

gnomAD frequency: 0.00006  dbSNP: rs138917116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475275 SCV000553915 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022664 SCV001184424 likely benign Hereditary cancer-predisposing syndrome 2018-03-29 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230266 SCV003928125 uncertain significance Paragangliomas 5 2023-04-20 criteria provided, single submitter clinical testing The SDHA c.453C>A (p.Val151=) synonymous change has a maximum subpopulation frequency of 0.005% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Algorithms that predict the impact of sequence changes on splicing indicate that this change may create or activate a cryptic donor splice site, but RNA studies indicate no splicing effect (internal data). To our knowledge, this variant has not been reported in individuals with SDHA-associated tumors. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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