ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822895 SCV000963718 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-09-20 criteria provided, single submitter clinical testing This variant, c.694_700delinsCTTTTTT, results in the replacement of residue 232 from isoleucine to leucine and the replacement of residue 234 from proline to serine (p.Ile232_Pro234delinsLeuPheSer), but otherwise preserves the integrity of the reading frame and the identity of residue 233. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another MUT variant in an individual with clinical symptoms of methylmalonic aciduria (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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