ClinVar Miner

Submissions for variant NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr)

gnomAD frequency: 0.00014  dbSNP: rs201866563
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232440 SCV000285678 uncertain significance Atrioventricular septal defect, susceptibility to, 2 2022-12-06 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 238218). This variant has not been reported in the literature in individuals affected with CRELD1-related conditions. This variant is present in population databases (rs201866563, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 192 of the CRELD1 protein (p.Cys192Tyr).
Undiagnosed Diseases Network, NIH RCV001255985 SCV001432766 uncertain significance CRELD1-related disorder 2020-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001560495 SCV001782921 pathogenic not provided 2024-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32437232, 37947183)
CeGaT Center for Human Genetics Tuebingen RCV001560495 SCV004146889 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing CRELD1: PP3
OMIM RCV003989107 SCV004805652 pathogenic Jeffries-Lakhani neurodevelopmental syndrome 2024-03-29 no assertion criteria provided literature only

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