ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)

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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 RCV003213156 SCV003909389 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.1419A>T (p.K473N) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a A to T substitution at nucleotide position 1419, causing the lysine (K) at amino acid position 473 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779741 SCV004597297 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-03-22 criteria provided, single submitter clinical testing

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