ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr)

dbSNP: rs2146021507
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808050 SCV002058473 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.751, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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