ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)

gnomAD frequency: 0.00028  dbSNP: rs982364753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489439 SCV000576976 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000700893 SCV000829670 uncertain significance Eichsfeld type congenital muscular dystrophy 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 2 of the SELENON protein (p.Gly2Cys). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SELENON-related conditions. ClinVar contains an entry for this variant (Variation ID: 426515). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SELENON 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.
Fulgent Genetics, Fulgent Genetics RCV002481555 SCV002786183 uncertain significance Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2021-10-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000700893 SCV003819309 uncertain significance Eichsfeld type congenital muscular dystrophy 2022-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168996 SCV003868684 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.4G>T (p.G2C) alteration is located in exon 1 (coding exon 1) of the SEPN1 gene. This alteration results from a G to T substitution at nucleotide position 4, causing the glycine (G) at amino acid position 2 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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