Submissions for variant NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met)

gnomAD frequency: 0.00003  dbSNP: rs201001000

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001349260	SCV001543594	uncertain significance	not provided	2023-08-22	criteria provided, single submitter	clinical testing	This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 479 of the IMPDH1 protein (p.Thr479Met). This variant is present in population databases (rs201001000, gnomAD 0.04%). This missense change has been observed in individual(s) with cone-rod dystrophy (PMID: 33090715). ClinVar contains an entry for this variant (Variation ID: 1044934). 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.
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	RCV003479315	SCV004218537	likely benign	Retinitis pigmentosa 10	2024-01-01	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888054	SCV004704772	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
CeGaT Center for Human Genetics Tuebingen	RCV001349260	SCV004811342	uncertain significance	not provided	2024-03-01	criteria provided, single submitter	clinical testing	IMPDH1: PP3