ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.4C>T (p.Arg2Trp)

gnomAD frequency: 0.00033  dbSNP: rs200441930
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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) RCV000724352 SCV000224368 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085419 SCV000380848 uncertain significance Mucopolysaccharidosis, MPS-III-D 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000173271 SCV000715735 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001085419 SCV001118932 likely benign Mucopolysaccharidosis, MPS-III-D 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001085419 SCV001716389 likely benign Mucopolysaccharidosis, MPS-III-D 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271998 SCV001453626 likely benign Sanfilippo syndrome 2020-01-14 no assertion criteria provided clinical testing

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