ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)

gnomAD frequency: 0.00002  dbSNP: rs767706407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113945 SCV001271765 uncertain significance Methylmalonic aciduria, cblB type 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002556226 SCV003657291 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.68G>A (p.G23D) alteration is located in exon 1 (coding exon 1) of the MMAB gene. This alteration results from a G to A substitution at nucleotide position 68, causing the glycine (G) at amino acid position 23 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001113945 SCV003808844 uncertain significance Methylmalonic aciduria, cblB type 2020-12-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480960 SCV004226375 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing PM2

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