ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)

dbSNP: rs1022473091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513047 SCV000609357 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524974 SCV003604754 uncertain significance Inborn genetic diseases 2022-01-07 criteria provided, single submitter clinical testing The c.4898C>T (p.S1633L) 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 4898, causing the serine (S) at amino acid position 1633 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003233658 SCV003931351 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233659 SCV003931352 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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