ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) (rs368790885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186047 SCV000239011 likely pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing The T370P missense variant in the MUT gene has been reported previously in association with methylmalonic acidemia (MMA) (Worgan et al., 2006). The T370P variant was identified on 2/58 (3.4%) MUT alleles in patients of African ancestry with MMA (Worgan et al., 2006). Based on currently available evidence, T370P is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186047 SCV000336767 likely pathogenic not provided 2015-11-25 criteria provided, single submitter clinical testing

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