ClinVar Miner

Submissions for variant NM_182924.4(MICALL2):c.2458C>T (p.Arg820Trp)

gnomAD frequency: 0.00101  dbSNP: rs200086992
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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 RCV000899355 SCV001043615 likely benign not provided 2018-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028491 SCV003540790 uncertain significance not specified 2022-04-12 criteria provided, single submitter clinical testing The c.2458C>T (p.R820W) alteration is located in exon 14 (coding exon 14) of the MICALL2 gene. This alteration results from a C to T substitution at nucleotide position 2458, causing the arginine (R) at amino acid position 820 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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