ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)

dbSNP: rs2105041468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002016744 SCV002304027 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2020-11-05 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the protein in which other variant(s) (p.Leu259Pro) have been observed in individuals with MMADHC-related conditions (PMID: 18385497). This suggests that this may be a clinically significant region of the MMADHC protein. This variant has not been reported in the literature in individuals with MMADHC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser255Cysfs*2) in the MMADHC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the MMADHC protein.

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