ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.429G>T (p.Arg143Ser)

gnomAD frequency: 0.00019  dbSNP: rs145010266
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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 RCV001945392 SCV002193560 uncertain significance Myoclonic dystonia 11 2024-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 143 of the SGCE protein (p.Arg143Ser). This variant is present in population databases (rs145010266, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SGCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1414820). 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 SGCE protein function with a negative predictive value of 80%. 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 RCV002557687 SCV003568557 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.429G>T (p.R143S) alteration is located in exon 4 (coding exon 4) of the SGCE gene. This alteration results from a G to T substitution at nucleotide position 429, causing the arginine (R) at amino acid position 143 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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