ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile)

gnomAD frequency: 0.00006  dbSNP: rs527362526
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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 RCV001245323 SCV001418604 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1153 of the SYNJ1 protein (p.Val1153Ile). This variant is present in population databases (rs527362526, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969879). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SYNJ1 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 RCV004034822 SCV004961679 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.3457G>A (p.V1153I) alteration is located in exon 25 (coding exon 25) of the SYNJ1 gene. This alteration results from a G to A substitution at nucleotide position 3457, causing the valine (V) at amino acid position 1153 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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