ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5458C>G (p.Arg1820Gly)

dbSNP: rs752720189
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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 RCV003209779 SCV003892080 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.5458C>G (p.R1820G) alteration is located in exon 32 (coding exon 32) of the AGRN gene. This alteration results from a C to G substitution at nucleotide position 5458, causing the arginine (R) at amino acid position 1820 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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