ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)

gnomAD frequency: 0.00008  dbSNP: rs750472814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003322942 SCV004027839 uncertain significance Spinocerebellar ataxia type 40 2023-08-17 criteria provided, single submitter clinical testing The identified heterozygous missense substitution (p.Glu247Lys) lies in exon 8 of the CCDC88C gene and alters a conserved residue in the protein. The identified variant has been reported in the dbSNP and gnomAD databases with MAF of 0.006%. The in silico prediction of the variant is damaging by Mutation Assessor, Mutation Taster and SIFT. In summary, the variant meets our criteria to be classified as variant of uncertain significance.
Ambry Genetics RCV004334069 SCV004922676 uncertain significance Inborn genetic diseases 2021-01-27 criteria provided, single submitter clinical testing The c.739G>A (p.E247K) alteration is located in exon 8 (coding exon 8) of the CCDC88C gene. This alteration results from a G to A substitution at nucleotide position 739, causing the glutamic acid (E) at amino acid position 247 to be replaced by a lysine (K). The p.E247K alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012870 SCV005637721 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2024-02-22 criteria provided, single submitter clinical testing

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