ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.372_374dup (p.Asp125_Asn126insGlu) (rs796052009)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186062 SCV000239026 likely pathogenic not provided 2013-10-16 criteria provided, single submitter clinical testing c.372_374dupGGA: p.Lys124_Asp125insGlu (K124_D125insE) in exon 2 of the MUT gene (NM_000255.3) sequence change that is likely pathogenic. The sequence shown with the inserted bases in braces is: ATAA{GGA}CAAC. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.372_374dupGGA variant causes an insertion of a Glutamic Acid residue between Lysine 124 and Asparagine 125, denoted p.Lys124_Asp125insGlu. This insertion occurs in the helix domain of the mutase protein where other pathogenic mutations, including deletions of single amino acids, have been reported in association with MMA. Therefore, c.372_374dupGGA is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MUT panel(s).

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