ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1588-3C>T (rs201818754)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960539 SCV001107530 likely benign Desbuquois dysplasia 1 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000115037 SCV000148946 pathogenic Desbuquois dysplasia 2 2014-03-06 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000115037 SCV001142462 uncertain significance Desbuquois dysplasia 2 2020-01-06 no assertion criteria provided curation NG_015843.1(NM_022166.3):c.1588-3C>T in XYLT1 gene has an allele frequency of 0.006 in Ashkenazi Jewish subpopulation in the gnomAD database. 3 homozygous occurrences are observed in the gnomAD database. This variant has been detected in an individual with Desbuquois dysplasia 2 (PMID: 24581741). Benign computational verdict because benign prediction from DANN. The available evidence is currently insufficient to determine the role of this variant in disease. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP3; PP4.

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