ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)

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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 RCV003110606 SCV003782349 uncertain significance MEGF10-related myopathy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 780 of the MEGF10 protein (p.Phe780Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs371145876, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with MEGF10-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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV004636698 SCV005134017 uncertain significance Inborn genetic diseases 2024-05-28 criteria provided, single submitter clinical testing The c.2338T>C (p.F780L) alteration is located in exon 19 (coding exon 17) of the MEGF10 gene. This alteration results from a T to C substitution at nucleotide position 2338, causing the phenylalanine (F) at amino acid position 780 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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