ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)

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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 RCV002301421 SCV002590406 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2022-08-17 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 24 of the SDHB protein (p.Gln24Leu).
Ambry Genetics RCV003308107 SCV004000797 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-13 criteria provided, single submitter clinical testing The p.Q24L variant (also known as c.71A>T), located in coding exon 1 of the SDHB gene, results from an A to T substitution at nucleotide position 71. The glutamine at codon 24 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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