ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) (rs139301835)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200793 SCV000252247 likely pathogenic not provided 2014-05-02 criteria provided, single submitter clinical testing p.Cys7Trp (TGC>TGG): c.21 C>G in exon 2 of the SERAC1 gene (NM_032861.3) A C7W variant that is likely pathogenic was identified in the SERAC1 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The C7W variant is 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. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded.The variant is found in MITONUC-MITOP panel(s).
Mendelics RCV000987811 SCV001137267 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000987811 SCV001525114 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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