ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)

dbSNP: rs1315623287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070345 SCV001235568 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 81 of the SDHB protein (p.Asn81Tyr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 863389). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SDHB protein function with a positive predictive value of 95%. 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 RCV003293864 SCV003997178 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The p.N81Y variant (also known as c.241A>T), located in coding exon 3 of the SDHB gene, results from an A to T substitution at nucleotide position 241. The asparagine at codon 81 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570304 SCV005056624 uncertain significance Gastrointestinal stromal tumor 2024-03-09 criteria provided, single submitter clinical testing

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