ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys)

gnomAD frequency: 0.00268  dbSNP: rs148518738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651400 SCV000773251 likely benign Congenital myasthenic syndrome 8 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001561020 SCV001783539 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531972 SCV003544847 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.5095C>T (p.R1699C) alteration is located in exon 29 (coding exon 29) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 5095, causing the arginine (R) at amino acid position 1699 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001561020 SCV004032537 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AGRN: BP4, BS1

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