ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe)

gnomAD frequency: 0.00024  dbSNP: rs200370409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228590 SCV000285551 likely benign Werner syndrome 2024-01-31 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316247 SCV004016250 likely benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401171 SCV004103543 uncertain significance WRN-related disorder 2024-02-13 no assertion criteria provided clinical testing The WRN c.3101A>T variant is predicted to result in the amino acid substitution p.Tyr1034Phe. This variant was reported in an individual with dyskeratosis/aplastic anemia (Patient #48, Arias-Salgado et al. 2019. PubMed ID: 30995915). This variant was also documented in an individual with multiple types of cancer (Hodgkin lymphoma, lymphangioma, breast carcinoma); however, this individual also harbored chain-terminating variants in CDKN2A and PMS1 (http://www.oncm.org/v02p0088.htm). This variant is reported in 0.12% of alleles in individuals of South Asian descent in gnomAD and is interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/238146/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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