ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)

gnomAD frequency: 0.00004  dbSNP: rs761119964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525003 SCV000645260 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243185 SCV003963627 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.4436C>T (p.A1479V) 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 4436, causing the alanine (A) at amino acid position 1479 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV003482284 SCV004230038 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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