ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)

gnomAD frequency: 0.00002  dbSNP: rs1292380177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594363 SCV000702163 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing
Invitae RCV000705450 SCV000834447 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 74 of the ISPD protein (p.Arg74Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ISPD-related conditions. ClinVar contains an entry for this variant (Variation ID: 497569). 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 expected to disrupt ISPD 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003139890 SCV003807498 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-07-29 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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