ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)

gnomAD frequency: 0.00009  dbSNP: rs369193825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553533 SCV000652588 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ISPD-related conditions. 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: 473157). This variant is present in population databases (rs369193825, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 259 of the ISPD protein (p.Pro259Leu).
Revvity Omics, Revvity RCV003133349 SCV003815685 uncertain significance not provided 2019-05-22 criteria provided, single submitter clinical testing

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