ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe)

gnomAD frequency: 0.00001  dbSNP: rs121909069
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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 RCV000007397 SCV004296904 uncertain significance Holoprosencephaly 4 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 162 of the TGIF1 protein (p.Ser162Phe). This variant is present in population databases (rs121909069, gnomAD 0.002%). This missense change has been observed in individual(s) with holoprosencephaly (PMID: 10835638). ClinVar contains an entry for this variant (Variation ID: 6982). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TGIF1 protein function. Experimental studies have shown that this missense change does not substantially affect TGIF1 function (PMID: 10835638). 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.
OMIM RCV000007397 SCV000027596 pathogenic Holoprosencephaly 4 2000-06-01 no assertion criteria provided literature only

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