ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4408G>C (p.Glu1470Gln)

dbSNP: rs1555333429
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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 RCV000647070 SCV000768857 uncertain significance Hypertrophic cardiomyopathy 14 2020-08-20 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH6-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 1470 of the MYH6 protein (p.Glu1470Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine.
Ambry Genetics RCV004025722 SCV003638230 uncertain significance Cardiovascular phenotype 2022-09-14 criteria provided, single submitter clinical testing The c.4408G>C (p.E1470Q) alteration is located in exon 31 (coding exon 29) of the MYH6 gene. This alteration results from a G to C substitution at nucleotide position 4408, causing the glutamic acid (E) at amino acid position 1470 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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