ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)

gnomAD frequency: 0.00001  dbSNP: rs749431351
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824040 SCV000964916 uncertain significance Hereditary pheochromocytoma-paraganglioma 2024-01-10 criteria provided, single submitter clinical testing This variant, c.145_147del, results in the deletion of 1 amino acid(s) of the SDHAF2 protein (p.Glu49del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749431351, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SDHAF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 665703). 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.
Genetic Services Laboratory, University of Chicago RCV001816911 SCV002064759 uncertain significance not specified 2020-09-01 criteria provided, single submitter clinical testing DNA sequence analysis of the SDHAF2 gene demonstrated a 3 base pair deletion in exon 2, c.145_147del. This in-frame deletion is predicted to result in the deletion of a single amino acid residue, p.Glu49del. This sequence change does not appear to have been previously described in patients with SDHAF2-related disorders and has been described in the gnomAD database with a frequency of 0.004% in the European sub-population (dbSNP rs749431351). The p.Glu49del change is located in a domain of the SDHAF2 protein that is not known to be functional. The functional significance of this sequence change is not known at present and its contribution to a disease phenotype cannot definitively be determined.
Ambry Genetics RCV002390713 SCV002696857 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing The c.145_147delGAA variant (also known as p.E49del) is located in coding exon 2 of the SDHAF2 gene. This variant results from an in-frame GAA deletion at nucleotide positions 145 to 147. This results in the in-frame deletion of a glutamic acid at codon 49. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be inconclusive 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.
GeneDx RCV003442118 SCV004170118 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004569785 SCV005056615 uncertain significance Paragangliomas 2 2024-01-03 criteria provided, single submitter clinical testing

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