ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1490885244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707140 SCV000836223 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2018-06-20 criteria provided, single submitter clinical testing 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 disruptive, 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 LIMS2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 245 of the LIMS2 protein (p.His245Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.
Revvity Omics, Revvity RCV000707140 SCV003814607 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2019-05-09 criteria provided, single submitter clinical testing

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