ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.1088C>T (p.Ser363Phe)

dbSNP: rs2124847412
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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 RCV004061867 SCV002730962 uncertain significance not specified 2021-11-05 criteria provided, single submitter clinical testing The p.S363F variant (also known as c.1088C>T), located in coding exon 7 of the IDH1 gene, results from a C to T substitution at nucleotide position 1088. The serine at codon 363 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.

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