ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)

gnomAD frequency: 0.00016  dbSNP: rs770257307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528327 SCV000652586 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 231 of the ISPD protein (p.Asp231Glu). This variant is present in population databases (rs770257307, gnomAD 0.04%). 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: 473156). 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 C35". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
GeneDx RCV001570151 SCV001794374 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024226 SCV003939306 uncertain significance not specified 2023-04-17 criteria provided, single submitter clinical testing The c.693C>A (p.D231E) alteration is located in exon 4 (coding exon 4) of the ISPD gene. This alteration results from a C to A substitution at nucleotide position 693, causing the aspartic acid (D) at amino acid position 231 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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