ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.250_251del (p.Leu84fs)

dbSNP: rs2102370242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380966 SCV001579200 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2023-03-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu84Phefs*13) in the SDHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHC are known to be pathogenic (PMID: 17667967, 19454582, 23282968, 24758179). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with paraganglioma (Invitae).
Ambry Genetics RCV003375274 SCV004096812 pathogenic Hereditary cancer-predisposing syndrome 2023-07-06 criteria provided, single submitter clinical testing The c.250_251delCT pathogenic mutation, located in coding exon 5 of the SDHC gene, results from a deletion of two nucleotides at nucleotide positions 250 to 251, causing a translational frameshift with a predicted alternate stop codon (p.L84Ffs*13). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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