ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)

gnomAD frequency: 0.00001  dbSNP: rs556069604
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815551 SCV000956012 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-07-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 574 of the POMGNT1 protein (p.Thr574Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD 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: 658684). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POMGNT1 protein function. 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.
Genome-Nilou Lab RCV001579105 SCV001806508 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579106 SCV001806509 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579107 SCV001806510 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579108 SCV001806511 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275230 SCV001460155 uncertain significance Muscle eye brain disease 2020-09-16 no assertion criteria provided clinical testing

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