ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.785C>T (p.Ser262Leu)

gnomAD frequency: 0.00001  dbSNP: rs1340043809
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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 RCV003198863 SCV003898024 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.785C>T (p.S262L) alteration is located in exon 5 (coding exon 5) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 785, causing the serine (S) at amino acid position 262 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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