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

gnomAD frequency: 0.24049  dbSNP: rs17603428

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082653	SCV000114695	benign	not specified	2014-06-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511649	SCV001718927	benign	Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625331	SCV001748518	benign	Mucopolysaccharidosis, MPS-III-C	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou 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
Breakthrough Genomics, Breakthrough Genomics	RCV000589562	SCV005265501	benign	not provided		criteria provided, single submitter	not provided
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082653	SCV001956458	benign	not specified		no assertion criteria provided	clinical testing