ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.485C>T (p.Pro162Leu)

gnomAD frequency: 0.00004  dbSNP: rs770734416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752497 SCV001997361 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003355535 SCV004076484 uncertain significance Inborn genetic diseases 2023-08-20 criteria provided, single submitter clinical testing The c.485C>T (p.P162L) alteration is located in exon 3 (coding exon 3) of the MEGF8 gene. This alteration results from a C to T substitution at nucleotide position 485, causing the proline (P) at amino acid position 162 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005057592 SCV005707108 uncertain significance MEGF8-related Carpenter syndrome 2024-05-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 162 of the MEGF8 protein (p.Pro162Leu). This variant is present in population databases (rs770734416, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MEGF8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1311514). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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