ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) (rs767780913)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195622 SCV000252256 pathogenic not provided 2016-04-25 criteria provided, single submitter clinical testing c.1628_1629dupCT: p.Val544LeufsX43 (V544LfsX43) in exon 15 of the SERAC1 gene (NM_032861.3). The normal sequence with the bases that are duplicated in braces is: TACT{CT}GTTA The c.1628_1629dupCT pathogenic variant in the SERAC1 gene has been reported previously in association with 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (Wortmann et al., 2012). The duplication causes a frameshift starting with codon Valine 544, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 43 of the new reading frame, denoted p.Val544LeufsX43. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in MGA-MITOP panel(s).
OMIM RCV000029222 SCV000051868 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2012-06-10 no assertion criteria provided literature only

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