ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met)

gnomAD frequency: 0.00002  dbSNP: rs758007485
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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 RCV001339220 SCV001532948 uncertain significance MEGF8-related Carpenter syndrome 2021-07-07 criteria provided, single submitter clinical testing 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. 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 C0"). This variant has not been reported in the literature in individuals with MEGF8-related conditions. This variant is present in population databases (rs758007485, ExAC 0.002%). This sequence change replaces threonine with methionine at codon 2328 of the MEGF8 protein (p.Thr2328Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine.
3billion RCV001339220 SCV005328940 likely benign MEGF8-related Carpenter syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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