ClinVar Miner

Submissions for variant NM_000248.3(MITF):c.1248G>A (p.Glu416=) (rs200830148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000286198 SCV000445940 likely benign Tietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343441 SCV000445941 likely benign Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589785 SCV000696086 benign not provided 2016-03-09 criteria provided, single submitter clinical testing Variant summary: This c.1248G>A variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. This variant was found in 492/120528 control chromosomes from the broad and large populations of ExAC at a frequency of 0.004082, predominantly in South Asian population with an allele frequency of 0.02967 (488/16448 chromosomes) including 12 homozygous occurrences. These frequencies are significantly greater than the maximal expected frequency of a pathogenic allele (0.0000125) in this gene, suggesting this variant is a benign polymorphism mainly found in South Asian population. The variant has not been reported in individuals with phenotypes linked to this gene, to our knowledge. Taken together, this variant has been classified as Benign.

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