ClinVar Miner

Submissions for variant NM_001128636.4(ELFN1):c.42_49del (p.Ala15fs)

dbSNP: rs2128605586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV005639024 SCV002011841 pathogenic Dursun-Ozgul neurodevelopmental syndrome 2025-10-13 no assertion criteria provided literature only
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences RCV001353345 SCV001548241 likely pathogenic Developmental and Epileptic Encephalopathy with Joint Laxity 2020-01-03 no assertion criteria provided clinical testing The c.42_49delGGCCGCCA: p.(Ala15Profs*241) in exon 2 (GRCh37, NM_001128636.2) of ELFN1 has not been reported previously in the literature. Molecular analysis confirmed homozygosity for a novel variant, c.42_49delGGCCGCCA: p.(Ala15Profs*241) in exon 2 of ELFN1. Sanger sequencing revealed that father and mother were both heterozygous carriers for the p.(Ala15Profs*241 ) variant in ELFN1. Sanger sequencing showed his younger sister was also homozygous for this rare variant. This genetic alteration was predicted as Disease-Causing by MutationTaster (with a score of 1.0). This genetic change was not present in our in-house database which comprises 410 clinically unrelated Turkish individuals. In summary, the p.(Ala15Profs*241) variant meets our criteria to be classified as likely pathogenic. Besides, Elfn1 mutations in mice were previously associated with seizures and hyperactivity (Dolan 2013).

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