ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003239208 SCV003936684 likely pathogenic not provided 2022-12-27 criteria provided, single submitter clinical testing Identified in the heterozygous state in a single individual with a positive newborn screen for an unspecific conditon; furthermore, no additional clinical or segregation information was provided (Adhikari et al., 2020); Nonsense variant predicted to result in protein truncation, as the last 69 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19058814, 33552904, 32778825)
Baylor Genetics RCV004572893 SCV005053336 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-11-20 criteria provided, single submitter clinical testing

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