ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp)

gnomAD frequency: 0.00002  dbSNP: rs747171841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003767005 SCV000640926 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-10-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs747171841, ExAC 0.03%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with EFHC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 465666). This sequence change replaces asparagine with aspartic acid at codon 630 of the EFHC1 protein (p.Asn630Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid.

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