ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)

dbSNP: rs698761
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261712 SCV000430680 benign Cystinuria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000261712 SCV001733481 benign Cystinuria 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001672579 SCV001883804 benign not provided 2020-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000261712 SCV002057060 benign Cystinuria 2021-07-15 criteria provided, single submitter clinical testing
Biotechnology Lab, University of Central Punjab RCV000261712 SCV004037440 pathogenic Cystinuria 2023-02-10 criteria provided, single submitter research A molecular and computational study performed on the Pakistani population reported this missense variant (M618I) in the SLC3A1 gene, as a pathogenic variant, by using the technique of Next-generation sequencing. The variant was potentially involved in causing Cystinuria by altering the structural and functional effect of the rBAT protein coded by the SLC3A1 gene. The variant was confirmed by ARMS-PCR at the population level (Zafar & Awais, 2023).

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