ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)

dbSNP: rs1173714647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556470 SCV000630710 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-11-08 criteria provided, single submitter clinical testing This variant, c.478_480del, results in the deletion of 1 amino acid(s) of the SDHB protein (p.Lys160del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 459150). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV001023034 SCV001184849 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-09 criteria provided, single submitter clinical testing The c.478_480delAAG variant (also known as p.K160del) is located in coding exon 5 of the SDHB gene. This variant results from an in-frame AAG deletion at nucleotide positions 478 to 480. This results in the in-frame deletion of a lysine at codon 160. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003476238 SCV004203003 uncertain significance Gastrointestinal stromal tumor 2024-02-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791526 SCV005409187 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing PM4

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