ClinVar Miner

Submissions for variant NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn)

dbSNP: rs112474181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075265 SCV001240880 uncertain significance Retinal dystrophy 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234321 SCV001406960 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 339 of the IMPG1 protein (p.Thr339Asn). This variant is present in population databases (rs112474181, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with IMPG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 866895). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Dept Of Ophthalmology, Nagoya University RCV001075265 SCV004704717 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004031189 SCV004885621 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing The c.1016C>A (p.T339N) alteration is located in exon 10 (coding exon 10) of the IMPG1 gene. This alteration results from a C to A substitution at nucleotide position 1016, causing the threonine (T) at amino acid position 339 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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