ClinVar Miner

Submissions for variant NM_001365480.1(CCDC88A):c.5086G>A (p.Val1696Ile)

gnomAD frequency: 0.00019  dbSNP: rs140794014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860604 SCV002216578 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1695 of the CCDC88A protein (p.Val1695Ile). This variant is present in population databases (rs140794014, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CCDC88A-related conditions. ClinVar contains an entry for this variant (Variation ID: 818163). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine 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.
Ambry Genetics RCV002549299 SCV003677256 likely benign Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies RCV001009548 SCV001169644 not provided PEHO syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-05-2017 by GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

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