ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys)

gnomAD frequency: 0.00029  dbSNP: rs143215498
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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 RCV001363346 SCV001559453 uncertain significance MEGF8-related Carpenter syndrome 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1606 of the MEGF8 protein (p.Tyr1606Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs143215498, ExAC 0.09%). This variant has not been reported in the literature in individuals affected with MEGF8-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 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.
GeneDx RCV001773720 SCV002003949 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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