ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134116 SCV003812788 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2019-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004636710 SCV005130023 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.727T>C (p.Y243H) alteration is located in exon 6 (coding exon 6) of the LTBP4 gene. This alteration results from a T to C substitution at nucleotide position 727, causing the tyrosine (Y) at amino acid position 243 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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