ClinVar Miner

Submissions for variant NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr)

gnomAD frequency: 0.00157  dbSNP: rs34620296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003430979 SCV004156194 benign not provided 2024-01-01 criteria provided, single submitter clinical testing HSPA1L: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003957886 SCV004766877 likely benign HSPA1L-related condition 2022-12-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Human Development and Health, University of Southampton RCV001782882 SCV000485067 association Inflammatory bowel disease 1 2016-08-06 no assertion criteria provided research HSPA1L loss of function - Our results indicate that de novo and rare mutations in HSPA1L are associated with IBD and provide insights into the pathogenesis of IBD

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