ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)

gnomAD frequency: 0.00009  dbSNP: rs759407117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295239 SCV001484154 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 696 of the MUT protein (p.Asp696Ala). This variant is present in population databases (rs759407117, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MUT-related conditions. ClinVar contains an entry for this variant (Variation ID: 999265). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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 RCV002486115 SCV002797029 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035636 SCV003864123 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.2087A>C (p.D696A) alteration is located in exon 12 (coding exon 11) of the MUT gene. This alteration results from a A to C substitution at nucleotide position 2087, causing the aspartic acid (D) at amino acid position 696 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830123 SCV002077357 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-01-17 no assertion criteria provided clinical testing

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