ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1571G>A (p.Cys524Tyr) (rs1554384440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000585951 SCV000696851 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1571G>A (p.Cys524Tyr) variant involves the alteration of a conserved nucleotide, is located in ABC transporter type 1, transmembrane domain (InterPro) and is predicted to be damaging by 5/5 in silico tools. This variant is absent in 120778 control chromosomes from ExAC. This variant has been reported in two pre-term twins with lethal course of meconium ileus in compound heterozygous state with a known severe mutation p.Phe508del (Puzik_2014). Parents were genotyped and each was heterozygous carrier for one of the variants. Based on the currently available information, this variant is classified as VUS-possibly pathogenic.
Counsyl RCV000673111 SCV000798279 uncertain significance Cystic fibrosis 2018-03-02 criteria provided, single submitter clinical testing

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