ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1165A>T (p.Ile389Phe)

gnomAD frequency: 0.00001  dbSNP: rs1471052510
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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 RCV000527079 SCV000640423 uncertain significance Giant axonal neuropathy 1 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 389 of the GAN protein (p.Ile389Phe). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GAN-related conditions. ClinVar contains an entry for this variant (Variation ID: 465386). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV004791550 SCV005411357 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing PM2_moderate
Ambry Genetics RCV004984962 SCV005588551 uncertain significance Inborn genetic diseases 2024-07-27 criteria provided, single submitter clinical testing The c.1165A>T (p.I389F) alteration is located in exon 7 (coding exon 7) of the GAN gene. This alteration results from a A to T substitution at nucleotide position 1165, causing the isoleucine (I) at amino acid position 389 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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