ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.72G>A (p.Gln24=)

dbSNP: rs1553179312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633964 SCV000755237 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-11-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). ClinVar contains an entry for this variant (Variation ID: 528740). This variant has not been reported in the literature in individuals affected with SDHB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 24 of the SDHB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDHB protein. This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon.
All of Us Research Program, National Institutes of Health RCV004003829 SCV004837186 likely benign Hereditary pheochromocytoma-paraganglioma 2024-02-05 criteria provided, single submitter clinical testing

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