ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.503C>T (p.Thr168Met)

gnomAD frequency: 0.00014  dbSNP: rs200690789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001279875 SCV003008488 uncertain significance Methylmalonic aciduria, cblB type 2021-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 168 of the MMAB protein (p.Thr168Met). This variant is present in population databases (rs200690789, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MMAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 991632). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MMAB protein function. 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 RCV003166608 SCV003897393 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.503C>T (p.T168M) alteration is located in exon 6 (coding exon 6) of the MMAB gene. This alteration results from a C to T substitution at nucleotide position 503, causing the threonine (T) at amino acid position 168 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279875 SCV001467010 uncertain significance Methylmalonic aciduria, cblB type 2020-08-18 no assertion criteria provided clinical testing

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