ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser)

gnomAD frequency: 0.00001  dbSNP: rs201129694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002489637 SCV001219072 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2019-02-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 470 of the EFHC1 protein (p.Thr470Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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. This variant is present in population databases (rs201129694, ExAC 0.003%).
Fulgent Genetics, Fulgent Genetics RCV002489637 SCV002781639 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619497 SCV005116525 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.1409C>G (p.T470S) alteration is located in exon 8 (coding exon 8) of the EFHC1 gene. This alteration results from a C to G substitution at nucleotide position 1409, causing the threonine (T) at amino acid position 470 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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