ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)

gnomAD frequency: 0.00051  dbSNP: rs200338042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000762019 SCV000618352 likely benign not provided 2021-08-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762019 SCV000892262 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV000762019 SCV001048937 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132168 SCV001291822 likely benign Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV002525140 SCV003534983 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.1972C>T (p.R658C) alteration is located in exon 16 (coding exon 16) of the LTBP4 gene. This alteration results from a C to T substitution at nucleotide position 1972, causing the arginine (R) at amino acid position 658 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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