ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.708C>T (p.His236=)

gnomAD frequency: 0.24874  dbSNP: rs1064315
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079044 SCV000110913 benign not specified 2017-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079044 SCV000304618 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368346 SCV000399644 benign Mucopolysaccharidosis, MPS-IV-A 2018-01-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000079044 SCV000917409 benign not specified 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The GALNS c.708C>T (p.His236His) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 76918/277000 control chromosomes (509 homozygotes) at a frequency of 0.2776823, which is approximately 136 times the estimated maximal expected allele frequency of a pathogenic GALNS variant (0.0020412), strongly suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000368346 SCV001721764 benign Mucopolysaccharidosis, MPS-IV-A 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675541 SCV001757050 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000368346 SCV001933716 benign Mucopolysaccharidosis, MPS-IV-A 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675541 SCV005252600 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675541 SCV000801232 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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