ClinVar Miner

Submissions for variant NM_007289.4(MME):c.157G>A (p.Asp53Asn)

gnomAD frequency: 0.00009  dbSNP: rs200215811
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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 RCV002022948 SCV002305170 uncertain significance not provided 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 53 of the MME protein (p.Asp53Asn). This variant is present in population databases (rs200215811, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MME-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV002022948 SCV002538818 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004641886 SCV005131828 uncertain significance Inborn genetic diseases 2024-06-02 criteria provided, single submitter clinical testing The c.157G>A (p.D53N) alteration is located in exon 2 (coding exon 1) of the MME gene. This alteration results from a G to A substitution at nucleotide position 157, causing the aspartic acid (D) at amino acid position 53 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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