ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr)

gnomAD frequency: 0.00004  dbSNP: rs770847993
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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 RCV003768984 SCV001237305 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 445 of the EFHC1 protein (p.Ala445Thr). This variant is present in population databases (rs770847993, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 864717). 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: "Tolerated"; PolyPhen-2: "Possibly 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 RCV004031161 SCV004862657 uncertain significance not specified 2023-09-20 criteria provided, single submitter clinical testing The c.1333G>A (p.A445T) alteration is located in exon 8 (coding exon 8) of the EFHC1 gene. This alteration results from a G to A substitution at nucleotide position 1333, causing the alanine (A) at amino acid position 445 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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