ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala)

gnomAD frequency: 0.00002  dbSNP: rs756395955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702312 SCV000831161 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 229 of the DCLRE1C protein (p.Val229Ala). This variant is present in population databases (rs756395955, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 579114). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001830550 SCV002079047 uncertain significance Athabaskan severe combined immunodeficiency 2019-10-28 no assertion criteria provided clinical testing

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