ClinVar Miner

Submissions for variant NM_001145059.2(IQCF5):c.83G>T (p.Arg28Leu)

dbSNP: rs199564539
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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 RCV004083248 SCV003536283 uncertain significance not specified 2025-01-24 criteria provided, single submitter clinical testing The c.83G>T (p.R28L) alteration is located in exon 2 (coding exon 2) of the IQCF5 gene. This alteration results from a G to T substitution at nucleotide position 83, causing the arginine (R) at amino acid position 28 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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