ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.609+6T>C

dbSNP: rs1682704400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306367 SCV001495737 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2022-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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 not present in population databases (gnomAD no frequency). 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: 1008950). 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.
Fulgent Genetics, Fulgent Genetics RCV001306367 SCV002780647 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001306367 SCV002083914 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2019-11-11 no assertion criteria provided clinical testing

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