ClinVar Miner

Submissions for variant NM_022765.4(MICAL1):c.3120G>T (p.Leu1040Phe)

gnomAD frequency: 0.00006  dbSNP: rs150739904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002201303 SCV002483104 benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047146 SCV003704729 uncertain significance not specified 2021-06-11 criteria provided, single submitter clinical testing The c.3120G>T (p.L1040F) alteration is located in exon 25 (coding exon 24) of the MICAL1 gene. This alteration results from a G to T substitution at nucleotide position 3120, causing the leucine (L) at amino acid position 1040 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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