ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633947 SCV003520077 uncertain significance Methylmalonic aciduria and homocystinuria type cblD 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 161 of the MMADHC protein (p.Phe161Ile). This variant is present in population databases (rs762133931, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MMADHC-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV003269516 SCV003948555 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.481T>A (p.F161I) alteration is located in exon 6 (coding exon 5) of the MMADHC gene. This alteration results from a T to A substitution at nucleotide position 481, causing the phenylalanine (F) at amino acid position 161 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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