ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1002+17C>T

gnomAD frequency: 0.01020  dbSNP: rs78494153
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079018 SCV000110887 benign not specified 2013-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000079018 SCV000917403 benign not specified 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The GALNS c.1002+17C>T variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 862/272430 (23 homozygotes) control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.033904 (800/23596, 22 homozygotes). This frequency is about 17 times the estimated maximal expected allele frequency of a pathogenic GALNS variant (0.0020412), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, a clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520916 SCV001730131 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520916 SCV002045054 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675533 SCV005252589 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675533 SCV000801224 likely benign not provided 2017-05-01 no assertion criteria provided clinical testing

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