ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.-15C>T

gnomAD frequency: 0.00087  dbSNP: rs527286367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730182 SCV000857901 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586906 SCV005076715 benign not specified 2024-04-11 criteria provided, single submitter clinical testing Variant summary: ST3GAL5 c.-15C>T is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.00015 in 1342446 control chromosomes, predominantly at a frequency of 0.0026 within the African or African-American subpopulation in the gnomAD database, including 2 homozygotes (gnomAD v4.0.0). The observed variant frequency within African or African-American control individuals in the gnomAD database and presence of 2 homozygotes strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.-15C>T in individuals affected with GM3 synthase deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 594804). Based on the evidence outlined above, the variant was classified as benign.

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