ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile)

gnomAD frequency: 0.00001  dbSNP: rs761189549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000266770 SCV000335450 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV002518882 SCV002964842 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-10-17 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. 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 ISPD protein function. ClinVar contains an entry for this variant (Variation ID: 283400). This variant has not been reported in the literature in individuals affected with ISPD-related conditions. This variant is present in population databases (rs761189549, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 280 of the ISPD protein (p.Arg280Ile).

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