ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4559C>T (p.Ser1520Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002758418 SCV003579659 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.4559C>T (p.S1520L) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a C to T substitution at nucleotide position 4559, causing the serine (S) at amino acid position 1520 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004529231 SCV004105362 uncertain significance GLI3-related disorder 2023-04-13 criteria provided, single submitter clinical testing The GLI3 c.4559C>T variant is predicted to result in the amino acid substitution p.Ser1520Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-42004112-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005227834 SCV005864837 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-08-02 criteria provided, single submitter clinical testing

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