ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.218A>G (p.Tyr73Cys)

gnomAD frequency: 0.00018  dbSNP: rs149889191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912080 SCV001057166 benign not provided 2022-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540837 SCV003647670 likely benign Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994158 SCV004813115 likely benign not specified 2024-02-07 criteria provided, single submitter clinical testing Variant summary: MBTPS2 c.218A>G (p.Tyr73Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00023 in 1208412 control chromosomes including 71 hemizygotes (gnomAD database, v4.0.0), suggesting a benign role for the variant. To our knowledge, no occurrence of c.218A>G in individuals affected with MBTPS2-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 736432). Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003950756 SCV004763205 likely benign MBTPS2-related disorder 2021-02-21 no assertion criteria provided 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).

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