ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.1930G>A (p.Ala644Thr)

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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 RCV005192620 SCV005819236 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 644 of the ERBB2 protein (p.Ala644Thr). This variant is present in population databases (rs750665964, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ERBB2-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 ERBB2 protein function with a negative predictive value of 80%. 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 RCV005326047 SCV005994099 uncertain significance not specified 2025-02-07 criteria provided, single submitter clinical testing The c.1930G>A (p.A644T) alteration is located in exon 16 (coding exon 16) of the ERBB2 gene. This alteration results from a G to A substitution at nucleotide position 1930, causing the alanine (A) at amino acid position 644 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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