ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.2315C>G (p.Ala772Gly)

gnomAD frequency: 0.00019  dbSNP: rs141007991
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264222 SCV000458564 likely benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361322 SCV000458565 benign Vitreoretinopathy 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 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.
Illumina Laboratory Services, Illumina RCV000264222 SCV000458566 likely benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512015 SCV001719352 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022008 SCV004977761 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.2315C>G (p.A772G) alteration is located in exon 7 (coding exon 6) of the VCAN gene. This alteration results from a C to G substitution at nucleotide position 2315, causing the alanine (A) at amino acid position 772 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001512015 SCV005227852 likely benign not provided criteria provided, single submitter not provided

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