ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)

gnomAD frequency: 0.00093  dbSNP: rs766521030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699749 SCV000828474 likely benign Desbuquois dysplasia 1 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001771984 SCV001994317 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003907952 SCV004718460 likely benign XYLT1-related condition 2022-05-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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