ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys)

dbSNP: rs764380983
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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) RCV000732808 SCV000860795 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002233741 SCV002508517 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2020-11-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ISPD-related conditions. ClinVar contains an entry for this variant (Variation ID: 596846). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with lysine at codon 291 of the ISPD protein (p.Thr291Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine.

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