ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.2923del (p.Ala975fs)

dbSNP: rs2484364261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Medical Genetics, University Of British Columbia RCV004587510 SCV004231721 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2024-01-12 no assertion criteria provided clinical testing This specific c.2923del variant in AEBP1 has not been reported previously and is absent from large population studies. To date, 14 patients from 12 families with biallelic AEBP1 related clEDS2 have been described (Angwin et al., 2023; Blackburn, Xu, et al., 2018; Di Giosaffatte et al., 2022; Hebebrand et al., 2019; Ritelli et al., 2019; Sanai et al., 2023; Syx et al., 2019; Yamaguchi et al., 2023).

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