ClinVar Miner

Submissions for variant NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys)

gnomAD frequency: 0.00002  dbSNP: rs1422916311
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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 RCV001326663 SCV001517705 uncertain significance not provided 2022-03-24 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1026239). This variant has not been reported in the literature in individuals affected with LZTFL1-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 271 of the LZTFL1 protein (p.Tyr271Cys).
Fulgent Genetics, Fulgent Genetics RCV002476536 SCV002778096 uncertain significance Bardet-Biedl syndrome 17 2022-01-18 criteria provided, single submitter clinical testing

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