ClinVar Miner

Submissions for variant NM_032575.3(GLIS2):c.1420C>T (p.Arg474Trp)

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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 RCV004179652 SCV003666545 uncertain significance not specified 2022-12-15 criteria provided, single submitter clinical testing The c.1420C>T (p.R474W) alteration is located in exon 6 (coding exon 6) of the GLIS2 gene. This alteration results from a C to T substitution at nucleotide position 1420, causing the arginine (R) at amino acid position 474 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021732 SCV005646883 uncertain significance Nephronophthisis 7 2024-04-01 criteria provided, single submitter clinical testing

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