ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val)

gnomAD frequency: 0.00006  dbSNP: rs773810917
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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 RCV003770248 SCV001380565 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 408 of the EFHC1 protein (p.Asp408Val). This variant is present in population databases (rs773810917, gnomAD 0.01%). 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"). ClinVar contains an entry for this variant (Variation ID: 939704). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions.
Ambry Genetics RCV004907682 SCV005572933 uncertain significance not specified 2024-08-27 criteria provided, single submitter clinical testing The c.1223A>T (p.D408V) alteration is located in exon 7 (coding exon 7) of the EFHC1 gene. This alteration results from a A to T substitution at nucleotide position 1223, causing the aspartic acid (D) at amino acid position 408 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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