ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.155-3C>T

gnomAD frequency: 0.00001  dbSNP: rs773403678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992104 SCV002282307 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2022-10-12 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the MMADHC gene. It does not directly change the encoded amino acid sequence of the MMADHC protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs773403678, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MMADHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1496876). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002625401 SCV003548367 uncertain significance Inborn genetic diseases 2021-01-08 criteria provided, single submitter clinical testing The c.155-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before coding exon 3 in the MMADHC gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001992104 SCV003808859 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2022-04-15 criteria provided, single submitter clinical testing

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