ClinVar Miner

Submissions for variant NM_001354483.2(CSGALNACT1):c.1439G>A (p.Arg480His)

gnomAD frequency: 0.00290  dbSNP: rs144295336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127391 SCV002409436 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500063 SCV002812570 likely benign Skeletal dysplasia, mild, with joint laxity and advanced bone age 2022-02-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002127391 SCV005266017 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003923675 SCV004737620 benign CSGALNACT1-related disorder 2024-03-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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