ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1525C>T (p.Pro509Ser)

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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 RCV003511128 SCV004278860 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004369175 SCV004958260 uncertain significance Inborn genetic diseases 2024-02-17 criteria provided, single submitter clinical testing The c.1525C>T (p.P509S) alteration is located in exon 12 (coding exon 12) of the SYN1 gene. This alteration results from a C to T substitution at nucleotide position 1525, causing the proline (P) at amino acid position 509 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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