ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)

dbSNP: rs864309742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000203311 SCV001388965 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2019-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu21Ilefs*2) in the MMADHC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). This variant has been observed in an individual affected with methylmalonic acidemia (PMID: 22156578). ClinVar contains an entry for this variant (Variation ID: 219001). This variant is not present in population databases (ExAC no frequency).
GeneReviews RCV000203311 SCV000258520 not provided Methylmalonic aciduria and homocystinuria type cblD no assertion provided literature only

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