ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.363C>T (p.Val121=)

dbSNP: rs1273832397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002086685 SCV002437129 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2022-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454498 SCV002614204 likely benign Hereditary cancer-predisposing syndrome 2020-10-26 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478941 SCV004220339 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). 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 SDHC mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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