ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile)

gnomAD frequency: 0.00001  dbSNP: rs766383336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729780 SCV000857469 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001209334 SCV001380764 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 53 of the POMGNT1 protein (p.Val53Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 594483). 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. 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.
Revvity Omics, Revvity RCV000729780 SCV003811763 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825456 SCV002090243 uncertain significance Muscle eye brain disease 2021-02-03 no assertion criteria provided clinical testing

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