ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.5dup (p.Val4fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002357983 SCV002655097 pathogenic Hereditary cancer-predisposing syndrome 2019-09-10 criteria provided, single submitter clinical testing The c.5dupC pathogenic mutation, located in coding exon 1 of the SDHA gene, results from a duplication of C at nucleotide position 5, causing a translational frameshift with a predicted alternate stop codon (p.V4Gfs*35). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098098 SCV003452679 pathogenic Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val4Glyfs*35) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1750996). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004052556 SCV004930718 pathogenic Paragangliomas 5 2024-02-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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