ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val)

dbSNP: rs757749808
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516928 SCV000614741 uncertain significance not provided 2019-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001070882 SCV001236160 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 642 of the POMGNT1 protein (p.Ile642Val). 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: 448109). 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.
Ambry Genetics RCV004023520 SCV005007229 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.1924A>G (p.I642V) alteration is located in exon 22 (coding exon 21) of the POMGNT1 gene. This alteration results from a A to G substitution at nucleotide position 1924, causing the isoleucine (I) at amino acid position 642 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829470 SCV002089573 uncertain significance Muscle eye brain disease 2019-10-28 no assertion criteria provided clinical testing

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