ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.50C>T (p.Ala17Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004947429 SCV005498507 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-30 criteria provided, single submitter clinical testing The p.A17V variant (also known as c.50C>T), located in coding exon 1 of the SDHA gene, results from a C to T substitution at nucleotide position 50. The alanine at codon 17 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038872 SCV005671657 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy 2024-01-02 criteria provided, single submitter clinical testing

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