ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met)

gnomAD frequency: 0.00001  dbSNP: rs749980859
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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 RCV000800971 SCV000940718 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-04-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 470 of the SYNJ1 protein (p.Val470Met). This variant is present in population databases (rs749980859, gnomAD 0.003%). 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: 646642). 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 methionine 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 RCV002534665 SCV003610882 uncertain significance Inborn genetic diseases 2022-02-17 criteria provided, single submitter clinical testing The c.1408G>A (p.V470M) alteration is located in exon 11 (coding exon 11) of the SYNJ1 gene. This alteration results from a G to A substitution at nucleotide position 1408, causing the valine (V) at amino acid position 470 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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