ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1377+20G>A (rs17603428)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082653 SCV000114695 benign not specified 2014-06-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082653 SCV000316173 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589562 SCV000699950 benign not provided 2016-12-04 criteria provided, single submitter clinical testing Variant summary: The c.1377+20G>A in HGSNAT gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.307 (35414/115280 chrs tested). The observed frequency exceeds the estimated maximal expected allele frequency of a pathogenic variant in HGSNAT gene (0.001). The variant has been reported as Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625331 SCV000744965 benign Mucopolysaccharidosis, MPS-III-C 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001511649 SCV001718927 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000625331 SCV001748518 benign Mucopolysaccharidosis, MPS-III-C 2021-07-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001532800 SCV001748519 benign Retinitis pigmentosa 73 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000589562 SCV001942902 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000589562 SCV000801588 benign not provided 2015-10-26 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000082653 SCV001919726 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000082653 SCV001956458 benign not specified no assertion criteria provided clinical testing

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