ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990185 SCV004806568 uncertain significance Hereditary spastic paraplegia 35 2024-03-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003990185 SCV005076567 likely pathogenic Hereditary spastic paraplegia 35 2024-04-24 criteria provided, single submitter clinical testing Variant summary: FA2H c.688G>A (p.Glu230Lys) results in a conservative amino acid change located in the Fatty acid hydroxylase (IPR006694) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251198 control chromosomes. c.688G>A has been reported in the literature in at-least four individuals affected with Hereditary Spastic Paraplegia (Cao_2020,5. Wang_2022, Xie_2020). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23566484, 36109173, 32619247). ClinVar contains an entry for this variant (Variation ID: 3065108). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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