ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.99G>A (p.Thr33=)

gnomAD frequency: 0.00003  dbSNP: rs145535502
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571257 SCV000675094 likely benign Hereditary cancer-predisposing syndrome 2015-08-14 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.
GeneDx RCV001697418 SCV000716413 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV000641920 SCV000763570 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392416 SCV004121627 uncertain significance SDHC-related disorder 2023-05-10 criteria provided, single submitter clinical testing The SDHC c.99G>A variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is predicted to interfere with splicing. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-161298207-G-A). In ClinVar, this variant is interpreted as likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/486428/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV001697418 SCV004125121 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SDHC: BP4, BP7

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