ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.234G>T (p.Lys78Asn) (rs776971836)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812361 SCV000952672 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 78 of the SDHB protein (p.Lys78Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHB-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV001015259 SCV001176075 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-10 criteria provided, single submitter clinical testing The p.K78N variant (also known as c.234G>T), located in coding exon 3 of the SDHB gene, results from a G to T substitution at nucleotide position 234. The lysine at codon 78 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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