ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg)

dbSNP: rs886054449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315758 SCV000413303 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521237 SCV003645666 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.4112C>G (p.P1371R) alteration is located in exon 31 (coding exon 31) of the LTBP4 gene. This alteration results from a C to G substitution at nucleotide position 4112, causing the proline (P) at amino acid position 1371 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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