ClinVar Miner

Submissions for variant NM_031206.7(LAS1L):c.1282G>A (p.Val428Met)

gnomAD frequency: 0.00002  dbSNP: rs1190754458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350405 SCV001544804 uncertain significance Wilson-Turner syndrome 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 428 of the LAS1L protein (p.Val428Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with LAS1L-related conditions.
Revvity Omics, Revvity RCV001350405 SCV003816486 uncertain significance Wilson-Turner syndrome 2019-11-14 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004554857 SCV005043827 uncertain significance not provided 2024-02-07 criteria provided, single submitter clinical testing PM2, BP4

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