ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)

gnomAD frequency: 0.00001  dbSNP: rs778409159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002995197 SCV003293889 uncertain significance not provided 2023-05-12 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. 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 POGZ protein function. ClinVar contains an entry for this variant (Variation ID: 2079158). This variant has not been reported in the literature in individuals affected with POGZ-related conditions. This variant is present in population databases (rs778409159, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1342 of the POGZ protein (p.Asn1342Lys).
Ambry Genetics RCV003269371 SCV003977898 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.4026T>G (p.N1342K) alteration is located in exon 19 (coding exon 18) of the POGZ gene. This alteration results from a T to G substitution at nucleotide position 4026, causing the asparagine (N) at amino acid position 1342 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340581 SCV004049777 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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