ClinVar Miner

Submissions for variant NM_001105247.2(ARMC5):c.2403G>T (p.Trp801Cys)

gnomAD frequency: 0.00003  dbSNP: rs372245661
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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 RCV003003651 SCV003708295 uncertain significance Inborn genetic diseases 2022-12-07 criteria provided, single submitter clinical testing The c.2403G>T (p.W801C) alteration is located in exon 6 (coding exon 6) of the ARMC5 gene. This alteration results from a G to T substitution at nucleotide position 2403, causing the tryptophan (W) at amino acid position 801 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005356332 SCV005920548 uncertain significance ACTH-independent macronodular adrenal hyperplasia 2 2022-08-22 criteria provided, single submitter research

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