ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)

gnomAD frequency: 0.00001  dbSNP: rs796052948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188807 SCV000242431 uncertain significance not provided 2014-05-21 criteria provided, single submitter clinical testing p.Thr468Ile (ACA>ATA): c.1403 C>T in exon 12 of the SCARB2 gene (NM_005506.3) A variant of unknown significance has been identified in the SCARB2 gene. The T468I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T468I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether the T468I variant is a pathogenic mutation or a rare benign variant.The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001047392 SCV001211347 uncertain significance Progressive myoclonic epilepsy 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517887 SCV003636300 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.1403C>T (p.T468I) alteration is located in exon 12 (coding exon 12) of the SCARB2 gene. This alteration results from a C to T substitution at nucleotide position 1403, causing the threonine (T) at amino acid position 468 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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