ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)

gnomAD frequency: 0.00009  dbSNP: rs762370550
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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 RCV000517512 SCV000613777 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727195 SCV000706543 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798006 SCV000937598 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-07-26 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 93 of the ISPD protein (p.Ile93Val). This variant is present in population databases (rs762370550, gnomAD 0.02%). 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: 447580). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV000727195 SCV003815679 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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