ClinVar Miner

Submissions for variant NM_000144.5(FXN):c.146C>A (p.Thr49Asn)

gnomAD frequency: 0.00004  dbSNP: rs995690945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334263 SCV001527057 uncertain significance Friedreich ataxia 1 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546678 SCV003742063 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.146C>A (p.T49N) alteration is located in exon 1 (coding exon 1) of the FXN gene. This alteration results from a C to A substitution at nucleotide position 146, causing the threonine (T) at amino acid position 49 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004793438 SCV005410716 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing BP4_moderate

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