ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.7546A>G (p.Met2516Val)

gnomAD frequency: 0.00003  dbSNP: rs201523092
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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 RCV002995011 SCV003293779 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2516 of the HERC1 protein (p.Met2516Val). This variant is present in population databases (rs201523092, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with HERC1-related conditions. 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 HERC1 protein function. 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.
Ambry Genetics RCV004065205 SCV004881320 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.7546A>G (p.M2516V) alteration is located in exon 38 (coding exon 37) of the HERC1 gene. This alteration results from a A to G substitution at nucleotide position 7546, causing the methionine (M) at amino acid position 2516 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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