ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.955A>G (p.Ile319Val)

dbSNP: rs377509915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557149 SCV000651472 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 319 of the SDHA protein (p.Ile319Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 472419). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDHA protein function. 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.
Counsyl RCV000662946 SCV000785907 uncertain significance Paragangliomas 5 2018-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019482 SCV001180846 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The p.I319V variant (also known as c.955A>G), located in coding exon 8 of the SDHA gene, results from an A to G substitution at nucleotide position 955. The isoleucine at codon 319 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000662946 SCV004018580 uncertain significance Paragangliomas 5 2023-04-20 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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