ClinVar Miner

Submissions for variant NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)

gnomAD frequency: 0.00001  dbSNP: rs561449819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003237320 SCV003935315 uncertain significance Hypotrichosis 14 2023-06-28 criteria provided, single submitter clinical testing The heterozygous variant c.1762G>A (p.Gly588Ser) has been identified on couple carrier screening in the asymptomatic wife This variant has been found 0.0128% gnomAD (Aggregated) (PM2_moderate). This variant has been previously reported in cataract PMID: 26200341 (PP5_supporting)
OMIM RCV000206988 SCV000262545 pathogenic Cataract 44 2022-02-10 no assertion criteria provided literature only

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