ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.702dup (p.Gly235fs)

dbSNP: rs1682617973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261554 SCV001438818 likely pathogenic Methylmalonic aciduria and homocystinuria type cblD criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001261554 SCV005329353 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift variant c.702dup(p.Gly235TrpfsTer10) in MMADHC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.702dup variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Pathogenic. However, no details are available for independent assessment. This variant causes a frameshift starting with codon Glycine 235, changes this amino acid to Tryptophan residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Gly235TrpfsTer10. As this variant is present in the last exon, functional studies will be required to prove protein truncation. For these reasons, this variant has been classified as Uncertain Significance.

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