ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.3957C>A (p.His1319Gln)

gnomAD frequency: 0.00032  dbSNP: rs143393049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179882 SCV000232199 uncertain significance not provided 2014-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179882 SCV001063262 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002515284 SCV003702985 uncertain significance Inborn genetic diseases 2024-10-20 criteria provided, single submitter clinical testing The c.3957C>A (p.H1319Q) alteration is located in exon 7 (coding exon 6) of the VCAN gene. This alteration results from a C to A substitution at nucleotide position 3957, causing the histidine (H) at amino acid position 1319 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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