ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1242C>T (p.Pro414=)

gnomAD frequency: 0.00001  dbSNP: rs777306884
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227375 SCV000288104 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987495 SCV001136798 likely benign Mitochondrial complex II deficiency, nuclear type 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010504 SCV001170712 likely benign Hereditary cancer-predisposing syndrome 2019-10-15 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.
Sema4, Sema4 RCV001010504 SCV002527696 likely benign Hereditary cancer-predisposing syndrome 2022-02-15 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003437020 SCV004151955 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SDHA: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003437020 SCV004220263 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000044 (5/113712 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect SDHA mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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