ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser)

gnomAD frequency: 0.00002  dbSNP: rs371958110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322458 SCV001513332 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135971 SCV003818870 uncertain significance not provided 2019-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004679076 SCV005165942 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.718G>T (p.A240S) alteration is located in exon 5 (coding exon 5) of the SYNJ1 gene. This alteration results from a G to T substitution at nucleotide position 718, causing the alanine (A) at amino acid position 240 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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