ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3550G>C (p.Ala1184Pro)

gnomAD frequency: 0.00002  dbSNP: rs772565258
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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 RCV002006051 SCV002272279 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1223 of the SYNJ1 protein (p.Ala1223Pro). This variant is present in population databases (rs772565258, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004970714 SCV005511069 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.3667G>C (p.A1223P) alteration is located in exon 29 (coding exon 29) of the SYNJ1 gene. This alteration results from a G to C substitution at nucleotide position 3667, causing the alanine (A) at amino acid position 1223 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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