ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.-5C>T

gnomAD frequency: 0.00006  dbSNP: rs572126995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409434 SCV000488759 uncertain significance Paragangliomas 5 2016-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568179 SCV000674976 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-15 criteria provided, single submitter clinical testing The c.-5C>T variant is located in the 5' untranslated region (5’ UTR) of the SDHA gene. This variant results from a C to T substitution 5 bases upstream from the first translated codon. This nucleotide position is not conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003328582 SCV004035476 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis predicts this variant does not impact splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Myriad Genetics, Inc. RCV000409434 SCV004045404 uncertain significance Paragangliomas 5 2023-04-21 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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