ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His)

dbSNP: rs541874206
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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 RCV001912882 SCV002175583 uncertain significance MEGF8-related Carpenter syndrome 2021-09-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1443 of the MEGF8 protein (p.Arg1443His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs541874206, ExAC 0.05%). 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.
Ambry Genetics RCV002555626 SCV003675807 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.4328G>A (p.R1443H) alteration is located in exon 25 (coding exon 25) of the MEGF8 gene. This alteration results from a G to A substitution at nucleotide position 4328, causing the arginine (R) at amino acid position 1443 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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