ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003374733 SCV004094829 uncertain significance Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.4919C>T (p.P1640L) 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 4919, causing the proline (P) at amino acid position 1640 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778089 SCV004569232 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-25 criteria provided, single submitter clinical testing

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