ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1246A>C (p.Asn416His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004947419 SCV005498487 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-11 criteria provided, single submitter clinical testing The p.N416H variant (also known as c.1246A>C), located in coding exon 9 of the SDHA gene, results from an A to C substitution at nucleotide position 1246. The asparagine at codon 416 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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