ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)

gnomAD frequency: 0.00004  dbSNP: rs749891883
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696941 SCV000825525 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000696941 SCV000895958 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334326 SCV002638021 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.4828C>T (p.L1610F) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a C to T substitution at nucleotide position 4828, causing the leucine (L) at amino acid position 1610 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV002473117 SCV002771066 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002473117 SCV005190539 uncertain significance not provided criteria provided, single submitter not provided

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