ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)

gnomAD frequency: 0.00024  dbSNP: rs146410859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240600 SCV001413564 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2023-03-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 563 of the SERAC1 protein (p.Ser563Cys). This variant is present in population databases (rs146410859, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SERAC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966020). 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 SERAC1 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 RCV002563978 SCV003532527 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.1688C>G (p.S563C) alteration is located in exon 16 (coding exon 15) of the SERAC1 gene. This alteration results from a C to G substitution at nucleotide position 1688, causing the serine (S) at amino acid position 563 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442802 SCV004170372 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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