ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2004del (p.Leu669fs)

dbSNP: rs2150616506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Haematogenetics, ICMR National Institute of Immunohaematology RCV001728106 SCV001976545 likely pathogenic Hereditary spherocytosis type 1 criteria provided, single submitter research
Neuberg Centre For Genomic Medicine, NCGM RCV001728106 SCV004047226 likely pathogenic Hereditary spherocytosis type 1 criteria provided, single submitter clinical testing The frame shift (c.2004del) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu669SerfsTer7 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar Miner database as Likely Pathogenic. This variant causes a frameshift starting with codon Leucine 669, changes this amino acid to Serine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Leu669SerfsTer7. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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