ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)

gnomAD frequency: 0.00106  dbSNP: rs145687082
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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) RCV000711913 SCV000704931 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711913 SCV000842324 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711913 SCV000884016 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Invitae RCV000711913 SCV001035166 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095865 SCV001252042 uncertain significance Schwartz-Jampel syndrome 2018-01-13 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.
Illumina Laboratory Services, Illumina RCV001095866 SCV001252043 uncertain significance Lethal Kniest-like syndrome 2018-01-13 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279380 SCV002566740 likely benign Connective tissue disorder 2022-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532468 SCV003680865 likely benign Inborn genetic diseases 2021-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity Omics RCV000711913 SCV003809223 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing

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