ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.430G>A (p.Ala144Thr)

gnomAD frequency: 0.00003  dbSNP: rs869320623
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000210390 SCV002208941 uncertain significance not provided 2023-10-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 144 of the EMC1 protein (p.Ala144Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with retinal dystrophy (PMID: 23105016). ClinVar contains an entry for this variant (Variation ID: 224802). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EMC1 protein function. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989504 SCV004806933 likely benign Cerebellar atrophy, visual impairment, and psychomotor retardation; 2024-03-26 criteria provided, single submitter clinical testing
OMIM RCV000210390 SCV000266487 uncertain significance not provided 2013-02-01 no assertion criteria provided literature only
Faculty of Health Sciences, Beirut Arab University RCV001257808 SCV001434686 pathogenic Autosomal recessive retinitis pigmentosa 2012-10-26 no assertion criteria provided literature only

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