ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.694C>T (p.Arg232Cys) (rs387907313)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189356 SCV000242993 pathogenic not provided 2014-05-15 criteria provided, single submitter clinical testing p.Arg232Cys (CGC>TGC): c.694 C>T in exon 6 of the SLC2A1 gene (NM_006516.2)The R232C mutation in the SLC2A1 gene was previously reported in multiple individuals from one family with idiopathic generalized epilepsy, predominantly characterized by absence seizures, and it was also detected in several unaffected family members consistent with reduced penetrance for this mutation (Striano et al., 2012). Functional studies indicate this mutation mildly impairs glucose transport (Striano et al., 2012). R232C was not detected in 846 normal control individuals, and the NHLBI ESP Exome Variant Project has not identified it in approximately 6,500 individuals of European or African American ethnicity (Striano et al., 2012; Exome Variant Project, 2014). The R232C mutation results in a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, and in silico algorithms predict R232C may be damaging to protein structure and function. It alters a highly conserved residue in the cytoplasmic loop between the sixth and seventh transmembrane domains, and missense mutations have been reported at other residues in this region of the protein in association with GLUT1 deficiency (Leen et al., 2010). The variant is found in EPILEPSY,CHILD-EPI panel(s).
OMIM RCV000030841 SCV000053516 risk factor Epilepsy, idiopathic generalized, susceptibility to, 12 2012-02-21 no assertion criteria provided literature only

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